#612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6

%612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA

%612165 RETINITIS PIGMENTOSA 29; RP29

#612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

%612162 ANEURYSM, INTRACRANIAL BERRY, 8
        Gene map locus 14q23

%612161 ANEURYSM, INTRACRANIAL BERRY, 7
        Gene map locus 11q24-q25

#612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS
        Gene map locus 2q32.3-q34

#612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA
        Gene map locus 1q42-q43

#612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA
        Gene map locus 8q24

#612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
        Gene map locus 14q13

#612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12
        Gene map locus 11p15.1

 612119 TREHALASE DEFICIENCY
        Gene map locus 11q23

%612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
        Gene map locus 6q25

%612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10
        Gene map locus 8q24

%612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9
        Gene map locus 13q14

#612109 OCULOAURICULAR SYNDROME
        Gene map locus 4p16.1

#612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1
        Gene map locus 2q24-q32

#612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15
        Gene map locus 7q35-q36

%612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2
        Gene map locus 9p21

#612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11
        Gene map locus 15q14

%612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS

%612096 OTOSCLEROSIS 8; OTSC8
        Gene map locus 9p13.1-p21.11

#612095 RETINITIS PIGMENTOSA 41; RP41
        Gene map locus 4p16.2-p12

%612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM
        Gene map locus 13q13.1

#612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
        Gene map locus 7q32.1

#612076 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2; UAQTL2
        Gene map locus 4p16-p15.3

#612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY
        Gene map locus 8q23.1

#612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA
        Gene map locus 13q12.2-q13

#612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10
        Gene map locus 1p36.2

#612067 DYSTONIA 16; DYT16
        Gene map locus 2q31.3

#612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2
        PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 2, INCLUDED; PAOD2, INCLUDED
        Gene map locus 15q24, 15q24

#612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1
        Gene map locus 4p16.3

%612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9
        Gene map locus 8p22

#612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
        Gene map locus 19p13.3

#612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA
        Gene map locus 10q23.13

%612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3
        Gene map locus 11q14-q22

#612016 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9
        Gene map locus 1q42.2

#612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
        Gene map locus 15q15.1, 3p21.1

#612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
        Gene map locus 12q24

%612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12
        Gene map locus 6q25.3

%612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11
        Gene map locus 3q28

%612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10
        Gene map locus 3q25-q26

%612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9
        Gene map locus 3p21

%612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8
        Gene map locus 2q11-q12

%612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7

#612004 THROMBOCYTOPENIA 4; THC4

%612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME
        Gene map locus 15q13.3

%611962 HUNTER-MACDONALD SYNDROME

 611961 STEVENSON-CAREY SYNDROME

#611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7
        Gene map locus 1q32.1

%611959 PROSTATE CANCER, HEREDITARY, 15; HPC15
        Gene map locus 19q13.4

%611958 PROSTATE CANCER, HEREDITARY, 14; HPC14
        Gene map locus 11q13

#611955 PROSTATE CANCER, HEREDITARY, 11; HPC11
        Gene map locus 17q12

#611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
        Gene map locus 20p11.2

%611948 KNOBLOCH SYNDROME, TYPE III
        Gene map locus 17q11.2

%611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37
        Gene map locus 8p21.1-q13.3

%611944 LYMPHEDEMA, HEREDITARY, IB
        Gene map locus 6q16.2-q22.1

 611943 RIDDLE SYNDROME

#611942 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6; EIG6
        Gene map locus 16p13.3

#611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
        Gene map locus 1p13.3-p11

%611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME
        Gene map locus 3q29

%611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5
        Gene map locus 10p11.22

 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III

#611928 PROSTATE CANCER, HEREDITARY, 13; HPC13
        Gene map locus 10q11.2

%611926 IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS

%611920 C-REACTIVE PROTEIN QUANTITATIVE TRAIT LOCUS
        Gene map locus 10q23-q24

%611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72
        Gene map locus 19p13.3

%611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14
        Gene map locus 16p11.2

%611907 EPISODIC ATAXIA, TYPE 7; EA7
        Gene map locus 19q13

%611897 NANOPHTHALMOS 3; NNO3
        Gene map locus 2q11-q14

#611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9
        Gene map locus 14q11

%611892 ANEURYSM, INTRACRANIAL BERRY, 6
        Gene map locus 9p21

%611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3
        Gene map locus 9p21

#611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD
        Gene map locus 9q34

 611886 MESOMELIC DYSPLASIA, CAMERA TYPE

#611884 CILIARY DYSKINESIA, PRIMARY, 7
        Gene map locus 7p21

#611881 ALDOLASE A DEFICIENCY
        Gene map locus 16p11.2

#611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A
        Gene map locus 19q13.4

#611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z
        Gene map locus 3p21.3-p14.3

#611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y
        Gene map locus 15q22.1

#611876 BRUGADA SYNDROME 4
        Gene map locus 10p12

#611875 BRUGADA SYNDROME 3
        Gene map locus 12p13.3

#611868 PROSTATE CANCER, HEREDITARY, 12; HPC12
        Gene map locus 2p15

#611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL
        Gene map locus 22q11.2

%611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA
        Gene map locus 4p16-p15

#611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1
        Gene map locus 1q21-q22

#611860 SECKEL SYNDROME 4; SCKL4
        Gene map locus 21q22.3

#611820 LONG QT SYNDROME 11; LQT11
        Gene map locus 7q21-q22

#611819 LONG QT SYNDROME 10; LQT10
        Gene map locus 11q23

#611818 LONG QT SYNDROME 9; LQT9
        Gene map locus 3p25

%611816 TEMPLE-BARAITSER SYNDROME

#611812 SEX REVERSAL, FEMALE, WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL
        Gene map locus 1p35

#611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
        Gene map locus 11q13

 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS; ETINPH

#611804 ELLIPTOCYTOSIS 1; EL1
        Gene map locus 1p36.2-p34

#611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6

#611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4
        Gene map locus 2p21-p16

#611777 BRUGADA SYNDROME 2
        Gene map locus 3p22.3

#611775 KAWASAKI DISEASE
        Gene map locus 19q13.2

#611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC
        Gene map locus 13q34

#611771 LIPOPROTEIN GLOMERULOPATHY; LPG
        Gene map locus 19q13.2

#611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2
        Gene map locus 19q13.4

#611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10
        Gene map locus 12q21.3

#611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9
        Gene map locus 20q11.2

%611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7
        Gene map locus 20p12.3

 611733 DAUWERSE-PETERS SYNDROME

#611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3; EPM3
        Gene map locus 7q11.21

%611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8
        Gene map locus 6p25.3

#611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
        Gene map locus 10q22.1

#611721 COMBINED SAPOSIN DEFICIENCY
        Gene map locus 10q22.1

#611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5
        Gene map locus 3q23

#611718 HYPOMAGNESEMIA 4, RENAL; HOMG4
        Gene map locus 4q25

%611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH

%611706 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12
        Gene map locus 10q22-q23

#611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY
        Gene map locus 2q31

 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE

%611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA

#611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7
        Gene map locus 12q22

 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB

%611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9
        Gene map locus 4q31.3-q32.3

#611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5
        Gene map locus 7q36

%611637 PRIMARY LATERAL SCLEROSIS, ADULT

%611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9
        Gene map locus 3p24.2-p23

%611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4
        Gene map locus 9q21-q22

%611630 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE
        Gene map locus 4q13.2-q21.3

#611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES

#611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X
        Gene map locus 9q31

#611603 LISSENCEPHALY 3; LIS3
        Gene map locus 12q12-q14

%611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
        AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED
        Gene map locus 4q27

#611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1
        Gene map locus 3q21-q25

#611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
        RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
        Gene map locus 17q21-q22

#611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M
        Gene map locus 9q31

#611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E
        Gene map locus 22q13

%611572 OTOSCLEROSIS 7; OTSC7
        Gene map locus 6q13-q16.1

%611571 OTOSCLEROSIS 4; OTSC4
        Gene map locus 16q22.1-q23.1

#611561 MECKEL SYNDROME, TYPE 5; MKS5

#611560 JOUBERT SYNDROME 7; JBTS7
        Gene map locus 16q12.2

#611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE
        Gene map locus 19q13.3

 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES

#611554 LEOPARD SYNDROME 2
        Gene map locus 3p25

#611553 NOONAN SYNDROME 5; NS5
        Gene map locus 3p25

#611548 PREMATURE OVARIAN FAILURE 5; POF5
        Gene map locus 7q35

#611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
        Gene map locus 12q14.3

#611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3
        Gene map locus 22q11.2-q12.1

%611543 CAVITARY OPTIC DISC ANOMALIES

%611536 MAJOR AFFECTIVE DISORDER 6; MAFD6
        Gene map locus 6q23-q24

%611535 MAJOR AFFECTIVE DISORDER 5; MAFD5
        Gene map locus 2q22-q24

#611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12
        Gene map locus 17q21

#611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6
        Gene map locus 6q16.1

%611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL

#611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY
        Gene map locus 19p13.2

%611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7

#611498 NEPHRONOPHTHISIS 7; NPHP7
        Gene map locus 16p13.3

#611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6
        Gene map locus 17q21.3

%611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5
        Gene map locus 4q25

#611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4

#611490 OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4; OPTB4
        Gene map locus 16p13

#611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
        CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED
        Gene map locus 14q32.1

#611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10
        Gene map locus 9q32-q33

%611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2

#611465 GALLBLADDER DISEASE 4

%611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3

%611454 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 2; ALSFTD2

#611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3
        Gene map locus 13q14.12-q14.2

%611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63
        Gene map locus 11q13.2-q13.3

#611431 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; NFLS
        Gene map locus 15q13.2

 611426 TENTED EYEBROWS

#611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W
        Gene map locus 10q22.1-q23

%611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
        Gene map locus 17q21

#611391 CATARACT, CORTICAL, JUVENILE-ONSET
        Gene map locus 20p12.1-p11.23

%611390 ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE; SPAX3

%611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1

#611383 USHER SYNDROME, TYPE IID; USH2D
        Gene map locus 9q32-q34

%611382 KALA-AZAR, SUSCEPTIBILITY TO, 3

%611381 KALA-AZAR, SUSCEPTIBILITY TO, 2

#611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9
        Gene map locus 19p13.3-p13.2

#611377 BRACHYDACTYLY, TYPE B2; BDB2

%611376 MUNGAN SYNDROME; MGS
        Gene map locus 8q23-q24

#611369 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3
        Gene map locus 19p13.3

%611364 MYOCLONIC EPILEPSY, JUVENILE, 4; EJM4
        Gene map locus 5q12-q14

#611363 ATRIAL SEPTAL DEFECT 4; ASD4
        Gene map locus 7p15-p14

%611311 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE

%611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT

%611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L
        Gene map locus 11p13-p12

%611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2
        Gene map locus 17p13

#611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION
        SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED

%611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD
        MUSICIAN DYSTONIA, INCLUDED

#611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
        Gene map locus 11q25

#611277 FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8
        Gene map locus 5q31.1-q33.1

%611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H

%611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N

#611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2
        Gene map locus 3q24-q26

%611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32

%611247 MAJOR AFFECTIVE DISORDER 4; MAFD4
        Gene map locus 16p12

%611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5

#611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J
        Gene map locus 6q21

%611222 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10

#611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G
        Gene map locus 17q25.1

%611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6

#611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H
        Gene map locus 16q22.1

 611174 HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY

#611162 MALARIA, SUSCEPTIBILITY TO
        MALARIA, RESISTANCE TO, INCLUDED
        Gene map locus 19p13.3-p13.2, 1q32, 17q21-q22, 17cen-q11.2, 1q22, 11q23-q24, 1q21-q22, 7q11.2, 6p21.3, 4q28.2-q31.1, 2q14-q21

%611155 ALZHEIMER DISEASE 15; AD15
        Gene map locus 3q22-q24

%611154 ALZHEIMER DISEASE 14; AD14

%611152 ALZHEIMER DISEASE 13; AD13
        Gene map locus 1q25, 1q21

%611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2

%611144 ABRAXAS BROTHER 1
        Gene map locus 10q26.13

%611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98
        Gene map locus 4q21.2

%611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8
        Gene map locus 9p21

#611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4
        Gene map locus 5q34-q35

#611134 MECKEL SYNDROME, TYPE 4; MKS4
        MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED
        Gene map locus 12q21.3

#611131 RETINITIS PIGMENTOSA 37
        Gene map locus 15q23

#611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF
        Gene map locus 3q26

%611109 CINNAMON ODOR, PLEASANTNESS OF
        Gene map locus 4q32.3

%611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4
        Gene map locus 1p21.1-p13.3

#611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL
        Gene map locus 1q25.1

#611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY

%611100 PROSTATE CANCER, HEREDITARY, 10; HPC10
        Gene map locus 8q24

%611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11
        Gene map locus 19q13.2-q13.3

%611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10
        Gene map locus 16p12-q12

%611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9
        Gene map locus 14q11.2-q12

%611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; MRT8
        Gene map locus 10q22

#611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7
        Gene map locus 8p12, 8p22

#611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6
        Gene map locus 6q21

%611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
        Gene map locus 5p15-p14

%611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12
        Gene map locus 1p34-p33

#611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE
        Gene map locus 17q23.3

#611081 INFLAMMATORY BOWEL DISEASE 10; IBD10
        Gene map locus 2q37.1

%611073 ALZHEIMER DISEASE 12
        Gene map locus 8p12-q22

#611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4
        Gene map locus 1p36

#611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
        Gene map locus 12q14.3

%611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
        Gene map locus 8q12-q13

#611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN
        Gene map locus 11q23

#611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
        Gene map locus 18q21.3

%611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2
        Gene map locus 16q13-q22.1

#611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24
        Gene map locus 11q23

%611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10
        Gene map locus 7q36

%611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9
        Gene map locus 7q31

#611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8
        Gene map locus 18q21.2

%611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4
        Gene map locus 11p15

%611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2
        Gene map locus 22q12

%611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1
        Gene map locus 10q22

%610997 PROSTATE CANCER, HEREDITARY, 9
        Gene map locus 17q21-q22

#610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
        Gene map locus 9q21.31

#610988 LEPROSY, SUSCEPTIBILITY TO, 4

#610984 COMPLEMENT FACTOR I DEFICIENCY
        GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY, INCLUDED

#610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
        CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM, INCLUDED
        Gene map locus 14q13

%610968 OSTEOGENESIS IMPERFECTA, TYPE VI

%610967 OSTEOGENESIS IMPERFECTA, TYPE V

#610965 XFE PROGEROID SYNDROME
        Gene map locus 16p13.3-p13.13

#610954 PITT-HOPKINS SYNDROME; PTHS
        Gene map locus 18q21.1

#610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
        Gene map locus 4q28.1-q28.2

%610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7
        Gene map locus 3p14.1-q12.3, 3p14.1-q12.3

#610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2
        Gene map locus 12p13.3-p11.2

#610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
        Gene map locus 7q11.2

#610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9
        Gene map locus 1q32

%610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5

#610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3
        Gene map locus 16p13.3

#610915 OSTEOGENESIS IMPERFECTA, TYPE VIII
        Gene map locus 1p34

#610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2
        Gene map locus 8p21

%610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED

%610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13

%610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4
        Gene map locus 1p31

#610905 AICARDI-GOUTIERES SYNDROME 5; AGS5
        Gene map locus 3p21.3-p21.2

%610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3
        Gene map locus 11p12-p11

#610896 BRANCHIOOTORENAL SYNDROME 2; BOR2
        Gene map locus 19q13.3

#610883 POTOCKI-LUPSKI SYNDROME; PTLS
        Gene map locus 17p11.2

#610878 VESICOURETERAL REFLUX 2; VUR2
        Gene map locus 3p12.3

%610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1
        Gene map locus 22q13

 610871 SAKODA COMPLEX
        SAKODA SPECTRUM, INCLUDED

#610854 OSTEOGENESIS IMPERFECTA, TYPE IIB
        Gene map locus 3p22

#610852 CILIARY DYSKINESIA, PRIMARY, 6
        Gene map locus 7p14-p13

#610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
        Gene map locus 2p12

%610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3
        Gene map locus 13q31.3-q32.1

%610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1
        Gene map locus 2q33.3

%610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12

%610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11
        Gene map locus 1q24.2

#610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N
        Gene map locus 16p12

 610830 POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME

#610829 HOLOPROSENCEPHALY 9; HPE9
        Gene map locus 2q14

#610828 HOLOPROSENCEPHALY 7; HPE7
        Gene map locus 9q22.3

%610805 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1
        Gene map locus 1p33-p32

#610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1
        INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED
        Gene map locus 12q12, 11q23-q24

#610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
        Gene map locus 1q22

 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE

#610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
        Gene map locus 12q23

#610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M
        Gene map locus 9q34.11

#610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
        Gene map locus 11q24-q25

%610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
        Gene map locus 12q23-q24

%610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
        Gene map locus 3q24-q26

%610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
        Gene map locus 2p24-p22

#610759 CORNELIA DE LANGE SYNDROME 3; CDLS3
        Gene map locus 10q25

#610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4
        Gene map locus 19q13.2-q13.3

#610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2
        Gene map locus 19q13.2-q13.3

#610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4
        Gene map locus 12p13

%610753 ALOPECIA AREATA 2
        Gene map locus 16q11-q22

%610744 IRIS PATTERN

#610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
        Gene map locus 6q25

#610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE, 3; SCN3
        Gene map locus 1q21.3

#610733 NOONAN SYNDROME 4; NS4
        Gene map locus 2p22-p21

#610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3
        Gene map locus 10q23

#610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM
        Gene map locus 11p15.5

#610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME
        Gene map locus 2q31-q32

%610708 OPTIC ATROPHY 5; OPA5
        Gene map locus 22q12.1-q13.1

%610707 PSORIASIS SUSCEPTIBILITY 8
        Gene map locus 16q

#610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA
        Gene map locus 11q13

#610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
        Gene map locus 1q32

#610688 JOUBERT SYNDROME 6; JBTS6
        Gene map locus 8q21.13-q22.1

#610687 NEMALINE MYOPATHY 7; NEM7
        Gene map locus 14q12

%610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2
        Gene map locus 6q14.1

#610682 OSTEOGENESIS IMPERFECTA, TYPE VII
        Gene map locus 3p22, 3p24.1-p22

 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS

#610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
        Gene map locus 16p11.2

%610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7
        Gene map locus 17q21

%610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4
        Gene map locus 7p14

#610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
        XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED
        Gene map locus 2q21

%610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3
        Gene map locus 8q24

#610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL
        PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED

%610634 CATARACT, POSTERIOR POLAR, 5; CTPP5
        Gene map locus 14q22-q23

#610629 DIAMOND-BLACKFAN ANEMIA 3
        Gene map locus 10q22-q23

#610628 KALLMANN SYNDROME 4; KAL4
        Gene map locus 3p21.1

#610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE III
        Gene map locus 5q33-qter

#610612 LEBER CONGENITAL AMAUROSIS, TYPE XII; LCA12
        Gene map locus 1q32.3

#610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
        Gene map locus 8q21

#610599 RETINITIS PIGMENTOSA 36; RP36
        Gene map locus 17q22

#610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3
        DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
        Gene map locus 11p15.1

#610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT
        Gene map locus 11q13

#610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
        Gene map locus 19p13.2

#610543 CHROMOSOME 16p13.3 DELETION SYNDROME
        Gene map locus 16p13.3

%610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES

#610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
        Gene map locus 10q22.1

 610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE

%610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M
        Gene map locus 5q22.1-q32

#610532 HYPOMYELINATION AND CONGENITAL CATARACT
        Gene map locus 7p15.3

#610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII; MODY7
        Gene map locus 2p25

#610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3
        Gene map locus 12q13-q14

#610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM
        Gene map locus 11q13.5

#610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
        Gene map locus 10q22.1

#610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
        Gene map locus 17q23-q24

%610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS

#610478 RETINAL CONE DYSTROPHY 4; RCD4
        Gene map locus 12p13.3

#610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11
        Gene map locus 18q12.1

#610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2
        Gene map locus 2q31.2

#610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
        Gene map locus 4p16.3

#610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY
        Gene map locus 6p22.3

#610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC
        Gene map locus 7q21

%610452 MUTAGEN SENSITIVITY

#610448 CHILBLAIN LUPUS; CHBL
        Gene map locus 3p21, 3p21.3-p21.2

#610446 BURULI ULCER, SUSCEPTIBILITY TO

#610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1

#610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3

 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE

%610441 TESTICULAR MICROLITHIASIS
        Gene map locus 4p15.31-p15.2

%610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4
        Gene map locus 2q33

%610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3
        Gene map locus 9p24-p22

%610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2
        Gene map locus 4q

#610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B
        Gene map locus 11q13.1

#610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4
        Gene map locus 22q11.2-q13.1

#610425 CATARACT, LAMELLAR 2
        Gene map locus 22q11.2-q13.1

#610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO
        Gene map locus 21q22.1, 21q22.1

%610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2
        Gene map locus 3q26.2-q26.31

%610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1

%610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68

%610402 ANEURYSM, INTRACRANIAL BERRY, 5
        Gene map locus 2p15-q14

%610382 PROSOPAGNOSIA, HEREDITARY

#610381 CONE-ROD DYSTROPHY 11; CORD11
        Gene map locus 19p13.3

#610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B
        Gene map locus 3p22

#610379 WEST NILE VIRUS, SUSCEPTIBILITY TO
        Gene map locus 3p21

#610377 MEVALONIC ACIDURIA
        MEVALONATE KINASE DEFICIENCY, INCLUDED

#610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2
        Gene map locus 11p15.1

#610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL

%610361 OROFACIAL CLEFT 9

%610359 RETINITIS PIGMENTOSA 33; RP33

%610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30

#610356 RETINAL CONE DYSTROPHY 3B; RCD3B

#610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
        Gene map locus 8p21

 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL

#610333 AICARDI-GOUTIERES SYNDROME 4; AGS4
        Gene map locus 19p13.13

%610332 OCULOOTOFACIAL DYSPLASIA

#610329 AICARDI-GOUTIERES SYNDROME 3; AGS3
        Gene map locus 11q13.2

%610321 PROSTATE CANCER, HEREDITARY, 7
        Gene map locus 15q12

%610320 MYOPIA 14

 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA

#610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2
        Gene map locus 11q13.3

#610297 PARKINSON DISEASE 13; PARK13
        Gene map locus 2p12

%610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3

%610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2

#610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
        Gene map locus 1q23.2

#610283 CONE-ROD DYSTROPHY 10; CORD10
        Gene map locus 1q22

#610282 RETINITIS PIGMENTOSA 35; RP35
        Gene map locus 1q22

%610279 PACHYGYRIA, FRONTOTEMPORAL

#610269 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2
        ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2; INCLUDED; ANON2, INCLUDED

#610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67
        Gene map locus 6p21.3

%610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6
        Gene map locus 5p13-q12

%610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5
        Gene map locus 20q11-q13

%610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2
        Gene map locus 16p13-p12

#610256 APHAKIA, CONGENITAL PRIMARY
        Gene map locus 1p32

#610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME
        Gene map locus 9q34.3

#610251 ALCOHOL SENSITIVITY, ACUTE
        HANGOVER, SUSCEPTIBILITY TO, INCLUDED

#610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31
        Gene map locus 2p11.2

%610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65
        Gene map locus 20q13.2-q13.3

%610247 ESOPHAGITIS, EOSINOPHILIC
        Gene map locus 7q11.2

%610246 SPINOCEREBELLAR ATAXIA 28; SCA28
        Gene map locus 18p11.22-q11.2

%610245 SPINOCEREBELLAR ATAXIA 23; SCA23
        Gene map locus 20p13-p12.3

#610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
        Gene map locus 10q24.2

%610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4
        Gene map locus 4q32.3

%610234 SYNPOLYDACTYLY 3
        Gene map locus 14q11.2-q12

#610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS
        Gene map locus 2q24-q31

#610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
        Gene map locus 17q25.3

#610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59
        Gene map locus 2q31.1-q31.3

#610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2
        Gene map locus 22q13.1

%610213 ANEURYSM, INTRACRANIAL BERRY, 4
        Gene map locus 5p15.2-p14.3

%610212 DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66
        Gene map locus 6p22.3-p21.2

%610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11

%610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10

#610205 ALAGILLE SYNDROME 2; ALGS2
        Gene map locus 1p13-p11

 610204 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET

#610202 CATARACT, PULVERULENT, JUVENILE-ONSET
        CATARACT, CONGENITAL, CERULEAN TYPE, 4, INCLUDED; CCA4, INCLUDED
        Gene map locus 16q22-q23

#610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
        Gene map locus 9p24.3-p23

#610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
        Gene map locus 3q26.3

#610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10
        Gene map locus 18q12.1-q12.2

#610189 SENIOR-LOKEN SYNDROME 6; SLSN6
        Gene map locus 12q21.3

#610188 JOUBERT SYNDROME 5; JBTS5
        Gene map locus 12q21.3

#610187 DIAPHRAGMATIC HERNIA 3
        Gene map locus 8q23

%610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION
        Gene map locus 17p

#610181 AICARDI-GOUTIERES SYNDROME 2; AGS2
        Gene map locus 13q14-q21

%610170 KYPHOSCOLIOSIS 1
        Gene map locus 5p13

#610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B
        Gene map locus 3p22

#610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA
        Gene map locus 1q22-q23

%610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2

%610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS

#610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
        Gene map locus 2q24

%610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44
        Gene map locus 7p14.1-q11.22

#610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
        Gene map locus 5q13.1

#610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7
        MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 10q25.3-q26.2

%610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62
        Gene map locus 12p13.2-p11.23

#610141 QT INTERVAL, VARIATION IN
        Gene map locus 1q23.3

%610140 HEART-HAND SYNDROME, SLOVENIAN TYPE

 610136 DEVRIENDT SYNDROME

#610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4; PEOA4
        Gene map locus 17q23-q24

#610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
        NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED
        Gene map locus 11p15.5

#610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5
        Gene map locus 14q21-q22

%610114 STATURE QUANTITATIVE TRAIT LOCUS 8
        Gene map locus 9q22

#610102 COMPLEMENT COMPONENT 7 DEFICIENCY
        Gene map locus 5p13

%610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT

%610099 MYOPATHY, DISTAL 3; MPD3
        Gene map locus 8p22-q11

#610093 MICROPHTHALMIA, ISOLATED 2; MCOP2
        Gene map locus 14q24.3

#610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3
        MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED
        Gene map locus 14q24.3

#610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
        Gene map locus 17q21.32

%610071 HYPERPARATHYROIDISM 3; HRPT3
        Gene map locus 2p14-p13.3

#610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2
        Gene map locus 10q22.3

%610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8
        Gene map locus 20q13

%610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7
        Gene map locus 20p12

%610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1
        Gene map locus Chr.17

#610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
        Gene map locus 12q13.2

#610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
        Gene map locus 7q35-q36

%610031 POLYMICROGYRIA, UNILATERAL

#610024 RETINAL CONE DYSTROPHY 3A; RCD3A
        Gene map locus 12p13

 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS

%610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7

%610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
        Gene map locus 3p22-p21

#610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

#610015 GLUTAMINE DEFICIENCY, CONGENITAL
        Gene map locus 1q31

#610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
        Gene map locus 10q25-q26

#610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
        Gene map locus 8pter-p22

 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH

%609995 MYOPIA 12
        Gene map locus 2q37.1

%609994 MYOPIA 11
        Gene map locus 4q22-q27

%609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE

%609990 TRICHOSCYPHODYSPLASIA

%609989 METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR, AND NORMAL HANDS

%609985 PANIC DISORDER 3
        Gene map locus 4q31-q34

%609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED
        Gene map locus 8p11.23-q11.21

#609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4
        Gene map locus 4q22-q26

#609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5
        Gene map locus 19p13.2

%609965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 53; DFNA53
        Gene map locus 14q11.2-q12

%609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3
        Gene map locus 2p16

%609955 FIBROMATOSIS, GINGIVAL, 3; GINGF3
        Gene map locus 2p23.3-p22.3

%609954 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4
        Gene map locus 3p24-p21

%609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55
        Gene map locus 4q12-q13.2

%609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47
        Gene map locus 2p25.1-p24.3

 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA

 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES

 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES

#609942 NOONAN SYNDROME 3
        Gene map locus 12p12.1

%609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51
        Gene map locus 11p13-p12

%609940 MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
        Gene map locus 9p22-p21

%609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6
        Gene map locus 16p12.3-q12.2

#609924 AMINOACYLASE 1 DEFICIENCY
        Gene map locus 3p21.1

#609923 RETINITIS PIGMENTOSA 31; RP31
        Gene map locus 9p21

%609919 GALLBLADDER DISEASE 3
        Gene map locus 1p34.3

%609918 GALLBLADDER DISEASE 2
        Gene map locus 1p36.21

%609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q
        Gene map locus 7q22.3-q31.1

%609913 RETINITIS PIGMENTOSA 32; RP32
        Gene map locus 1p21.3-p13.3

#609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P
        Gene map locus 6q22.1

%609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5
        Gene map locus 13q32

%609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3
        Gene map locus 15q25.3-q26.1

#609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
        Gene map locus 11p13

%609888 LEPROSY, SUSCEPTIBILITY TO, 1
        Gene map locus 10p13

#609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G
        Gene map locus 5q21.3-q22.1

#609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA
        Gene map locus 16p12.3

%609876 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6
        Gene map locus 21q22.13-qter

#609830 ABDOMINAL BODY FAT DISTRIBUTION
        Gene map locus 20q13.1-q13.2, 3p25, 2p23.3

#609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
        Gene map locus 22q13.1

%609822 STATURE QUANTITATIVE TRAIT LOCUS 7
        Gene map locus 1p21

#609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT
        Gene map locus 3q24-q25

#609820 ERYTHROCYTOSIS, FAMILIAL, 3
        Gene map locus 1q42-q43

%609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL

%609815 ZYGODACTYLY 1
        Gene map locus 3p21.31

#609814 COMPLEMENT FACTOR H DEFICIENCY
        MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, TYPE II, WITH COMPLEMENT FACTOR H DEFICIENCY, INCLUDED
        Gene map locus 1q32

#609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3
        Gene map locus 7p22

#609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, WITH EXOCRINE DYSFUNCTION; MODY8
        Gene map locus 9q34.3

 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS

%609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4
        Gene map locus 2p24

#609796 PEELING SKIN SYNDROME, ACRAL TYPE
        Gene map locus 15q15.2

%609790 ALZHEIMER DISEASE 11
        Gene map locus 9p22.1

%609782 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 2

%609781 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1

#609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME

#609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3
        Gene map locus 2q33

%609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2
        Gene map locus 5q31-q33

#609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4
        Gene map locus 19p13.1

%609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4
        Gene map locus 10q25-q26

%609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I
        Gene map locus 15q11-q13

#609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2
        Gene map locus 22q11.2-q12.2

#609734 PROOPIOMELANOCORTIN DEFICIENCY

%609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29
        Gene map locus 1p31.1-p21.1

#609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53

#609698 THYROID HORMONE METABOLISM, ABNORMAL
        Gene map locus 9q22.2

%609670 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9

%609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2
        Gene map locus 5q

%609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1
        Gene map locus 17q23

 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS

 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS

%609649 TRICHILEMMAL CYST 1; TRICY1
        Gene map locus 3p24-p21.2

%609647 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46
        Gene map locus 18p11.32-p11.31

%609646 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 42; DFNB42

%609643 NGUYEN SYNDROME

%609640 FRIAS SYNDROME

#609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
        Gene map locus 6p24

#609637 HOLOPROSENCEPHALY 5; HPE5
        Gene map locus 13q32

%609636 ALZHEIMER DISEASE 10
        Gene map locus 7q36

#609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
        Gene map locus 2q24

%609633 MAJOR AFFECTIVE DISORDER 3; MAFD3
        Gene map locus 21q22.13

%609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1
        Gene map locus 11q13.3

%609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT

#609628 MAJEED SYNDROME

%609625 CHROMOSOME 10q DELETION SYNDROME
        Gene map locus 10q

#609622 SHORT QT SYNDROME 3; SQT3
        Gene map locus 17q23.1-q24.2

#609621 SHORT QT SYNDROME 2; SQT2
        Gene map locus 11p15.5

#609620 SHORT QT SYNDROME 1; SQT1
        Gene map locus 7q35-q36

 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS

 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE
        EXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, AND OCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED

#609597 PARIETAL FORAMINA 2; PFM2
        Gene map locus 11p11.2

#609583 JOUBERT SYNDROME 4; JBTS4
        Gene map locus 2q13

#609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION

%609578 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2

%609573 PHOTOPAROXYSMAL RESPONSE 3; PPR3
        Gene map locus 7q32

%609572 PHOTOPAROXYSMAL RESPONSE 2; PPR2
        Gene map locus 13q31.3

%609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8
        Gene map locus 5q21

%609569 PHOTOPAROXYSMAL RESPONSE; PPR
        PHOTOPAROXYSMAL RESPONSE 1, INCLUDED; PPR1, INCLUDED
        Gene map locus 6p21.1

%609566 PARIETAL FORAMINA 3; PFM3

#609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
        Gene map locus 16q22

%609558 PROSTATE CANCER, HEREDITARY, 6
        Gene map locus 22q12.3

#609549 NANOPHTHALMOS 2; NNO2

 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS

%609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN
        Gene map locus 11q13

 609537 LIPOMYELOMENINGOCELE

#609536 COMPLEMENT COMPONENT 5 DEFICIENCY

#609535 DRUG METABOLISM, POOR, CYP2C19-RELATED
        MEPHENYTOIN, POOR METABOLISM OF, INCLUDED

#609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23
        Gene map locus 10q21-q22

#609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO
        HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED
        Gene map locus 1q31-q32, 12q14, 3p21

#609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2
        Gene map locus 17p11.2

#609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
        Gene map locus 22q11.2

#609524 FILAMINOPATHY, AUTOSOMAL DOMINANT

 609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES

#609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
        RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED

%609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET

%609470 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 2
        Gene map locus 11p15

%609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS
        Gene map locus 11q24

 609466 CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS

 609465 AL-GAZALI SYNDROME

#609464 SARCOIDOSIS, EARLY-ONSET
        Gene map locus 16q12

#609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
        Gene map locus 10q22.1

%609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE

%609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2
        Gene map locus 1q31.1

#609452 MYOPATHY, MYOFIBRILLAR, ZASP-RELATED
        Gene map locus 10q22.2-q23.3

#609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD
        Gene map locus 10q22.3

 609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO

#609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES

%609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48

 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK

%609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD

%609428 TUKEL SYNDROME
        Gene map locus 21q22

%609425 CHROMOSOME 3q29 MICRODELETION SYNDROME
        Gene map locus 3q29

#609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
        HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED
        Gene map locus 19q13.4, 19p13.3, 17q21.1-q21.2, 17q12, 17q11.2-q12, 17q11.2, 16p12.1-p11.2, 12q14, 10q11.1, 2q35

%609408 HOLOPROSENCEPHALY 8; HPE8
        Gene map locus 14q13

#609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4

%609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3
        Gene map locus 9p13

%609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2
        Gene map locus 2p25

%609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4
        Gene map locus 4q13-q21

%609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B; CFEOM3B

%609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6
        Gene map locus 17q11

%609376 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1
        Gene map locus 19q13

 609363 COLLOID CYSTS OF THIRD VENTRICLE

%609354 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5
        Gene map locus 11q23

#609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA

 609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA

%609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28
        Gene map locus 14q21.3-q22.3

#609338 CAROTID INTIMAL MEDIAL THICKNESS 1

#609334 CHROMOSOME 18 PERICENTRIC INVERSION

%609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES

%609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA

#609322 RHABDOID TUMOR; RDT
        TERATOID TUMOR, ATYPICAL, INCLUDED

%609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9

%609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6

%609313 ERYTHROKERATODERMIA VARIABILIS 3

#609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H
        Gene map locus 12p11.2

#609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2
        Gene map locus 3p21.3

#609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K
        Gene map locus 9q34.1

#609307 SPINOCEREBELLAR ATAXIA 27; SCA27
        Gene map locus 13q34

%609306 SPINOCEREBELLAR ATAXIA 26; SCA26

#609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
        Gene map locus 11p15.5

%609299 PROSTATE CANCER, HEREDITARY, 5
        Gene map locus 3p26

 609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS

 609289 SYNCOPE, FAMILIAL NEUROCARDIOGENIC

#609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3
        Gene map locus 10q24

#609285 NEMALINE MYOPATHY 4; NEM4
        CAP DISEASE, INCLUDED

#609284 NEMALINE MYOPATHY 1; NEM1

#609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2

%609273 NEMALINE MYOPATHY 6; NEM6

%609271 KERATOCONUS 4; KTCN4
        Gene map locus 2p24

%609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
        Gene map locus 11p15

%609266 LI-FRAUMENI SYNDROME 3
        Gene map locus 1q23

#609265 LI-FRAUMENI SYNDROME 2; LFS2
        Gene map locus 22q12.1

%609261 STUTTERING, FAMILIAL PERSISTENT 2; STUT2
        Gene map locus 12q24.1

#609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2
        Gene map locus 1p36.2

%609259 MYOPIA 10
        Gene map locus 8p23

%609258 MYOPIA 9
        Gene map locus 4q12

%609257 MYOPIA 8
        Gene map locus 3q26

%609256 MYOPIA 7
        Gene map locus 11p13

%609255 FEBRILE CONVULSIONS, FAMILIAL, 5; FEB5
        Gene map locus 6q22-q24

#609254 SENIOR-LOKEN SYNDROME 5; SLSN5
        Gene map locus 3q21.1

%609253 FEBRILE CONVULSIONS, FAMILIAL, 6; FEB6
        Gene map locus 18p11.2

 609250 HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE

#609242 KANZAKI DISEASE
        Gene map locus 22q11

#609241 SCHINDLER DISEASE, TYPE I
        ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED
        Gene map locus 22q11

#609227 GRISCELLI SYNDROME, TYPE 3; GS3
        Gene map locus 2q37

%609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE

%609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC

#609220 BRUCK SYNDROME 2
        Gene map locus 3q23-q24

%609218 FOVEAL HYPOPLASIA AND ANTERIOR SEGMENT DYSGENESIS
        Gene map locus 16q23.2-q24.2

#609200 MYOTILINOPATHY
        Gene map locus 5q31

%609197 GLUCOCORTICOID DEFICIENCY 3

%609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
        Gene map locus 12p11.1-q14

#609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A

#609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F
        Gene map locus 17p13.1-p12

%609179 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7
        Gene map locus 15q11.2-q12

%609166 BRANCHIOGENIC-DEAFNESS SYNDROME

%609165 ERYTHROKERATODERMA, RETICULAR

%609164 UMBILICUS, FAMILIAL FLAT

%609162 CZECH DYSPLASIA, METATARSAL TYPE

%609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD
        Gene map locus 5q13.3-q14.1

%609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7
        Gene map locus 10q22.3

%609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK
        Gene map locus 2q35-q36

#609152 HYPERTHYROIDISM, NONAUTOIMMUNE
        Gene map locus 14q31

#609148 MALARIA, MILD, SUSCEPTIBILITY TO
        Gene map locus 6p21.3, 6p21.3

%609143 TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM

#609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3
        Gene map locus 10p11.2

#609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2

#609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH
        Gene map locus 22q13

#609135 APLASTIC ANEMIA
        Gene map locus 12q14, 5p15.33, 3q21-q28

%609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
        Gene map locus 13q14-q21, 9q33-q34

%609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4

%609122 ANEURYSM, INTRACRANIAL BERRY, 3
        Gene map locus 1p36.13-p34.3

%609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G
        Gene map locus 4q21

%609113 TELOMERE LENGTH, MEAN LEUKOCYTE
        Gene map locus 14q23.2

 609070 HEMOGLOBIN, HIGH OXYGEN SATURATION OF

#609069 DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS
        Gene map locus 10p12.3

#609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD
        AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, ITALIAN TYPE, INCLUDED

#609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1
        Gene map locus 3q25.1-q26.2

#609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
        Gene map locus 11p15.5

#609056 AMISH INFANTILE EPILEPSY SYNDROME
        Gene map locus 2p11.2

%609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9

#609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J
        Gene map locus 17q22

#609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

%609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4

#609049 PIERSON SYNDROME
        NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES, INCLUDED
        Gene map locus 3p21

#609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3
        Gene map locus 12q14

 609047 SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA

%609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27
        Gene map locus 10q22.1-q24.1

#609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9
        Gene map locus 12p11

%609039 NARCOLEPSY 3
        Gene map locus 21q11.2

 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE

%609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
        Gene map locus 1q31-q32

#609029 EMANUEL SYNDROME

#609027 INDIAN BLOOD GROUP SYSTEM; IN

%609026 CATARACT, AGE-RELATED CORTICAL
        Gene map locus 6p12-q12

%609021 PERIPHERAL CONE DYSTROPHY

#609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
        Gene map locus 2p23

#609015 TRIFUNCTIONAL PROTEIN DEFICIENCY
        TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED
        Gene map locus 2p23, 2p23

 609008 MARFANOID HABITUS WITH SITUS INVERSUS

#609006 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 36; DFNB36
        Gene map locus 1p36.3-p36.1

#608996 PREMATURE OVARIAN FAILURE 3; POF3
        Gene map locus 3q23

%608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8
        Gene map locus 1p36-p34

%608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2
        Gene map locus 6q14-q16

%608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT
        Gene map locus 8p12-q12.1

#608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3
        Gene map locus 2q33-q35

%608982 STATURE QUANTITATIVE TRAIT LOCUS 5
        Gene map locus 3p26

 608980 BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS

#608978 MEACHAM SYNDROME

#608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE

%608970 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2

#608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A
        Gene map locus 9q33-q34

#608957 CD8 DEFICIENCY, FAMILIAL
        Gene map locus 2p12

%608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY

%608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1
        Gene map locus 6q23-q25

%608932 KERATOCONUS 2; KTCN2
        Gene map locus 16q22.3-q23.1

#608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
        MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED
        Gene map locus 17p12-p11, 17p13-p12, 11p11.2-p11.1, 9q31.3-q32

#608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
        Gene map locus 17p13-p12, 2q33-q34, 2q24-q32

%608911 CHOANAL ATRESIA, POSTERIOR; PCA

%608908 MYOPIA 6
        Gene map locus 22q12

%608907 ALZHEIMER DISEASE 9
        Gene map locus 19p13.2

%608906 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4
        Gene map locus 5p13

%608905 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3
        Gene map locus 6q12

%608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2
        Gene map locus 17p11

%608903 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1
        Gene map locus 16p13

#608902 DRUG METABOLISM, POOR, CYP2D6-RELATED
        DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED

#608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5
        Gene map locus 3q13

#608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
        Gene map locus 17q25.1

#608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
        Gene map locus 14q32.1

#608890 WAARDENBURG SYNDROME, TYPE IID
        Gene map locus 8q11

 608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY

%608878 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20
        Gene map locus 20q13

%608875 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14
        Gene map locus 14q32

#608874 OROFACIAL CLEFT 5
        Gene map locus 4p16.1

#608864 OROFACIAL CLEFT 6
        Gene map locus 1q32-q41

%608852 PULMONARY FUNCTION
        Gene map locus 6q21-q22

%608850 MACULAR DYSTROPHY, RETINAL, 3

#608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
        Gene map locus 22q12.3-q13.1

#608837 CARNEY COMPLEX VARIANT
        Gene map locus 17p13.1

#608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
        Gene map locus 1p32

%608831 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2
        Gene map locus 14q13-q21

%608816 MYOCLONIC EPILEPSY, JUVENILE, 3
        Gene map locus 6p21

 608814 LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES

%608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1
        Gene map locus 9q22.32-q31.1

 608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH

#608810 ALPHA-B CRYSTALLINOPATHY
        ALPHA-B CRYSTALLINOPATHY WITH CATARACT, INCLUDED
        Gene map locus 11q22.3-q23.1

 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH

#608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
        Gene map locus 12q24

#608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
        Gene map locus 2q31

#608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY

#608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1
        Gene map locus 1q41-q42

#608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT
        Gene map locus 6q22-q23

#608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
        Gene map locus 20q13.13

%608796 MOYAMOYA DISEASE 3
        Gene map locus 8q23

%608787 OTOSCLEROSIS 5; OTSC5
        Gene map locus 3q22-q24

#608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
        Gene map locus 8q22.1

%608781 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3
        Gene map locus 1q21-q22

#608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
        Gene map locus 16p

#608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
        Gene map locus 11q23

#608768 SPINOCEREBELLAR ATAXIA 8; SCA8
        Gene map locus 13q21

#608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3
        Gene map locus 8q12.1

 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE

%608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3
        Gene map locus 9q32-q33

#608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10
        CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2, INCLUDED
        Gene map locus 12q23-q24.3

#608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
        Gene map locus 3p

#608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
        Gene map locus 12q22-q24.1

%608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4
        Gene map locus 12p12.2-p12.1

#608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
        Gene map locus 2p24-p23

 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA

#608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5
        MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5, WITH SIMPLIFIED GYRAL PATTERN, INCLUDED
        Gene map locus 1q31

%608710 WEGENER GRANULOMATOSIS
        Gene map locus 6p21.3

#608709 BARRAQUER-SIMONS SYNDROME
        Gene map locus 19p13.3

%608703 SPINOCEREBELLAR ATAXIA 25; SCA25
        Gene map locus 2p21-p13

%608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K
        Gene map locus 20p12

%608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J
        Gene map locus 9q22

%608691 MAJOR DEPRESSIVE DISORDER 2
        Gene map locus 15q25.3-q26.2

#608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF
        Gene map locus 2q35

%608687 SPINOCEREBELLAR ATAXIA 20; SCA20
        Gene map locus 11p13-q11

#608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2
        Gene map locus 15q26.1

#608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
        Gene map locus 12q24

 608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY

%608664 SECKEL SYNDROME 3; SCKL3
        Gene map locus 14q21-q22

%608658 PROSTATE CANCER, HEREDITARY, 4
        Gene map locus 7p11-q21

%608656 PROSTATE CANCER, HEREDITARY, 3
        Gene map locus 20q13

#608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
        Gene map locus 1p13.1

%608653 DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32

%608652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 47; DFNA47

%608649 ICHTHYOSIS PREMATURITY SYNDROME

%608647 CILIARY DYSKINESIA, PRIMARY, 5
        Gene map locus 16p12.2-p12.1

%608646 CILIARY DYSKINESIA, PRIMARY, 4
        Gene map locus 15q13.1-q15.1

%608645 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31; DFNA31

#608644 CILIARY DYSKINESIA, PRIMARY, 3
        Gene map locus 5p15-p14

#608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
        Gene map locus 7p11

#608641 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28
        Gene map locus 8q22

%608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1
        Gene map locus 3q25-q27

#608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
        Gene map locus 10q22.1

%608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4
        Gene map locus 15q11

#608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
        Gene map locus 7q11.23

%608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
        Gene map locus 17p13

#608629 JOUBERT SYNDROME 3; JBTS3
        Gene map locus 6q23.3

#608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
        Gene map locus 20q13.3

 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA

#608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO
        Gene map locus 5q34

#608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME
        Gene map locus 17q24

#608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB
        Gene map locus 1p34

#608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
        Gene map locus 2p11.2

%608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1

#608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
        Gene map locus 9q34.3

%608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G
        Gene map locus 12q12-q13.3

%608586 KERATOCONUS 3; KTCN3
        Gene map locus 3p14-q13

%608585 BRACHIAL PALSY, FAMILIAL CONGENITAL

#608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
        Gene map locus 7p15-p14

%608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1
        Gene map locus 1q21.1, 10q22-q24

 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16
        Gene map locus 7q22

#608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO
        TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO
        Gene map locus 6p21.3, 6p21.3

#608578 CEREBROFRONTOFACIAL SYNDROME

%608572 BURN-MCKEOWN SYNDROME

 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

#608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O
        Gene map locus 12p12.1

#608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1
        Gene map locus 3p21

#608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
        Gene map locus 14q24.3

%608562 POLYDACTYLY, POSTAXIAL, TYPE A4
        Gene map locus 7q22

%608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN
        Gene map locus 20pter-p11.2

%608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16, IN CHILDREN
        Gene map locus 16p13

#608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2

#608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
        Gene map locus 1q41-q42

%608553 LEBER CONGENITAL AMAUROSIS, TYPE IX

%608545 LARSEN-LIKE SYNDROME
        Gene map locus 6p25

%608543 SCHIZOPHRENIA 12
        Gene map locus 1p36.2

%608542 ANEURYSM, INTRACRANIAL BERRY, 2
        Gene map locus 19q13

#608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
        Gene map locus 16p13.3

%608526 PERIODONTITIS, AGGRESSIVE, 2
        Gene map locus 1q25

%608520 MAJOR DEPRESSIVE DISORDER 1
        Gene map locus 12q22-q23.2

 608518 OROFACIODIGITAL SYNDROME VII; OFD7

#608516 MAJOR DEPRESSIVE DISORDER; MDD
        SEASONAL AFFECTIVE DISORDER, INCLUDED; SAD, INCLUDED
        Gene map locus 15q25.3-q26.2, 13q14-q21, 12q22-q23.2, 12q21.1, 6p21.3-p21.2

 608509 ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA

 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA

%608474 MYOPIA 5
        Gene map locus 17q21-q22

#608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A
        Gene map locus 5q31

#608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1
        Gene map locus 5q31

%608462 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8
        Gene map locus 9q31

#608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
        Gene map locus 1p34.3-p32.1

%608454 KNOBLOCH SYNDROME, TYPE II

%608448 INFLAMMATORY BOWEL DISEASE 9; IBD9
        Gene map locus 3p26

%608447 CAROTID INTIMAL MEDIAL THICKNESS 2
        Gene map locus 12q24

#608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
        Gene map locus 1q25, 6q25.1, 1p34

%608445 SPEECH-SOUND DISORDER
        Gene map locus 3p12-q13

#608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
        Gene map locus 19p13.12

%608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4
        Gene map locus 12q24

 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM

%608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F
        Gene map locus 7q32.1-q32.2

#608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
        Gene map locus 19q13.11, 17q23-q24

%608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4
        Gene map locus 4p15-p14

 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY

#608404 PLATELET GLYCOPROTEIN IV DEFICIENCY
        Gene map locus 7q11.2

#608395 KARAK SYNDROME
        Gene map locus 22q13.1

%608394 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43

#608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6
        Gene map locus 13q12.2

%608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3
        Gene map locus Chr.8

%608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2
        Gene map locus Chr.7

#608390 MYOTONIA, POTASSIUM-AGGRAVATED
        Gene map locus 17q23.1-q25.3

#608389 BRANCHIOOTIC SYNDROME 3; BOS3
        Gene map locus 14q23

#608380 RETINITIS PIGMENTOSA 26; RP26
        Gene map locus 2q31.2-q32.3

%608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49
        Gene map locus 1q21-q23

%608371 OROFACIAL CLEFT 4
        Gene map locus 4q21-q31

%608367 MYOPIA 4
        Gene map locus 7q36

#608363 MICRODUPLICATION 22q11.2

#608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE
        Gene map locus 15q26.1

#608358 MYOPATHY, MYOSIN STORAGE
        Gene map locus 14q12

#608355 PARKES WEBER SYNDROME
        Gene map locus 5q13.3

#608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
        Gene map locus 5q13.3

%608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3

#608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A

#608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
        Gene map locus 15q21.1

#608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
        Gene map locus 1p35

#608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
        Gene map locus 15q26

%608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4
        Gene map locus 14q32

%608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2
        Gene map locus 2q21.1-q22

%608290 LELIS SYNDROME

 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES

 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS

 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY

#608266 PARATHYROID CARCINOMA
        Gene map locus 1q25-q31

%608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39
        Gene map locus 7q11.22-q21.12

%608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40
        Gene map locus 22q11.21-q12.1

 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT

%608251 PHOBIA, SPECIFIC
        Gene map locus Chr.14

%608244 OTOSCLEROSIS 3; OTSC3
        Gene map locus 6p22.3-p21.3

#608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT
        Gene map locus 8p23

#608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2
        Gene map locus 5q14.1

#608232 LEUKEMIA, CHRONIC MYELOID; CML
        Gene map locus 22q11.21

 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION

%608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41
        Gene map locus 12q24.32-qter

 608223 ASPIRIN RESISTANCE

%608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38
        Gene map locus 6q26-q27

%608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3

%608207 KALA-AZAR, SUSCEPTIBILITY TO, 1
        Gene map locus 22q12

#608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME
        Gene map locus 22q12.3-q13.2

#608194 CONE-ROD DYSTROPHY 9; CORD9
        Gene map locus 14q11

#608189 TROPICAL CALCIFIC PANCREATITIS
        Gene map locus 5q32

 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4

#608180 SYNPOLYDACTYLY 2; SPD2
        Gene map locus 22q13.3

%608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4
        Gene map locus 10q

#608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3
        Gene map locus 8q24.2-q24.3, 8q23-q24

%608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2
        Gene map locus 5q31-q33

%608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1
        Gene map locus 6p11

#608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
        Gene map locus 11q13, 6p21.1-cen

%608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY

%608156 NABLUS MASK-LIKE FACIAL SYNDROME

%608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES

#608149 UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14

#608133 RETINITIS PIGMENTOSA 7; RP7
        Gene map locus 6p21.1-cen

 608118 ZINC IN BREAST MILK, REDUCED
        ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC, INCLUDED

#608115 OVARIAN HYPERSTIMULATION SYNDROME
        Gene map locus 2p21-p16

#608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
        Gene map locus 12q23-q24.1

%608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
        Gene map locus 16p12-p11.2

#608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H
        Gene map locus 11pter-p15.5

#608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
        Gene map locus 17q12-q21.33

%608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES

#608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE
        Gene map locus 20q13.13

%608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2
        Gene map locus 12q22-q23.3

#608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J
        Gene map locus 11q23.3

%608091 JOUBERT SYNDROME 2; JBTS2
        Gene map locus 11p12-q13.3

#608089 ENDOMETRIAL CANCER
        Gene map locus 2p16

%608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX
        Gene map locus 3p24-p22

%608078 SCHIZOPHRENIA 11
        Gene map locus 10q22.3

%608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE

 608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF

#608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY, AND LEUKOMELANODERMIC PAPULES; LDHCP
        Gene map locus 1q21.2

%608051 MACULAR DYSTROPHY, RETINAL, 2
        Gene map locus 4p16.3-p15.2

%608049 AUTISM, SUSCEPTIBILITY TO, 3
        Gene map locus 13q14.2-q14.1

%608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4
        Gene map locus 5q34-q35.2

%608035 MELANOMA, CUTANEOUS MALIGNANT, 4
        Gene map locus 1p22

%608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT

%608031 AMYOTROPHIC LATERAL SCLEROSIS 7
        Gene map locus 20p13

%608030 AMYOTROPHIC LATERAL SCLEROSIS 6
        Gene map locus 16q12

%608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6
        Gene map locus 20q11-q13

 608028 THAI SYMPHALANGISM SYNDROME

%608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY
        Gene map locus 7q11-q21

%608026 HYPERTENSIVE NEPHROPATHY
        Gene map locus 9q31-q32

%608022 DIAPHANOSPONDYLODYSOSTOSIS

#608013 GAUCHER DISEASE, PERINATAL LETHAL
        Gene map locus 1q21

%607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3
        Gene map locus 11p15.5

%607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2
        Gene map locus 2q34-q35

%607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1
        Gene map locus 10q22.3

%607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1
        Gene map locus 2q35

#607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
        MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED
        Gene map locus 19p13.3, 17q11.2-q12, 12q14, 11q23-q24, 6q23-q24, 2q37.1, 2q35

 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA

#607941 ATRIAL SEPTAL DEFECT 2; ASD2
        Gene map locus 8p23.1-p22

%607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
        Gene map locus 12q13

#607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6
        Gene map locus 14q22-q23

#607921 RETINITIS PIGMENTOSA 30; RP30
        Gene map locus 17q25

#607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY

#607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP

#607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
        Gene map locus 9q22

#607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH
        Gene map locus 18q12

%607893 OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO
        Gene map locus 3p25-p22

%607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
        Gene map locus 2p11.1-q12.2

#607872 MONOSOMY 1p36 SYNDROME

#607864 CAUDAL DUPLICATION ANOMALY
        Gene map locus 16p13.3

 607859 ANGIOMA, TUFTED

%607857 PSORIASIS SUSCEPTIBILITY 9
        Gene map locus 4q31-q34

#607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
        MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED
        Gene map locus 6q22-q23

%607853 PANIC DISORDER 2
        Gene map locus 9q31

#607850 HAND OSTEOARTHRITIS; HOA
        Gene map locus 2p24-p23

#607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
        Gene map locus 1p22

%607842 AURAL ATRESIA, CONGENITAL
        Gene map locus 18q22.3-q23

#607841 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION IN MYO1A
        DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 48, INCLUDED; DFNA48, INCLUDED
        Gene map locus 12q13-q15

#607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1
        Gene map locus 1p31

%607834 NEUROTICISM
        ANXIETY, INCLUDED
        Gene map locus 17q11.1-q12

#607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
        Gene map locus Chr.6

#607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K
        CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED
        Gene map locus 8q13-q21.1

%607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2
        Gene map locus 11p15.4

#607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
        Gene map locus 20q13.33

#607822 ALZHEIMER DISEASE 3
        ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED
        Gene map locus 14q24.3

#607821 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37
        Gene map locus 6q13

#607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
        Gene map locus 14q21.1

#607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
        Gene map locus 3p25

#607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
        Gene map locus 1q22

#607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML
        Gene map locus 17q11.2, 12q24.1, 5q31

#607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD
        Gene map locus 2q33-q35

#607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
        Gene map locus 16p12-p11.2

#607748 HYPERCHOLANEMIA, FAMILIAL; FHCA
        Gene map locus 1q42.1, 9q22.3, 9q12-q13

#607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
        Gene map locus 2q23-q24.3

#607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
        Gene map locus 1q22

#607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
        Gene map locus 8p21

 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H

%607728 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2
        Gene map locus 15q25.1-q26.1

 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR

#607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
        Gene map locus 8q13-q21.1

 607694 LEUKODYSTROPHY WITH OLIGODONTIA

#607689 ANDERSON DISEASE
        Gene map locus 5q31.1

#607688 PARKINSON DISEASE 11; PARK11
        Gene map locus 2q21.2

%607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
        Gene map locus 16q24.1

#607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
        Gene map locus 4q12

#607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
        Gene map locus 8p21

%607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52
        Gene map locus 4q28

#607682 EPILEPSY, CHILDHOOD ABSENCE, 3
        Gene map locus 3q26-qter

#607681 EPILEPSY, CHILDHOOD ABSENCE, 2
        Gene map locus 5q31.1-q33.1

#607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
        Gene map locus 10q21.1-q22.1

#607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
        Gene map locus 1q22

#607676 IRAK4 DEFICIENCY
        Gene map locus 12q12

%607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY

%607671 DYSTONIA 13, TORSION; DYT13
        Gene map locus 1p36.32-p36.13

 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU
        ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED

%607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME

%607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME

#607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME
        Gene map locus 6p24

#607654 KERATOSIS PALMOPLANTARIS STRIATA III
        Gene map locus 12q13

%607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1
        Gene map locus 11p13-q12

#607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B
        Gene map locus 2p13

#607636 VAN BUCHEM DISEASE, TYPE 2
        Gene map locus 11q13.4

#607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
        Gene map locus 11q13.4

#607631 EPILEPSY, JUVENILE ABSENCE; JAE
        Gene map locus 6p12-p11, 3q26-qter

#607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING
        Gene map locus 3q26-qter

#607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
        Gene map locus 3q28-q29

#607625 NIEMANN-PICK DISEASE, TYPE C2
        Gene map locus 14q24.3

#607624 GRISCELLI SYNDROME, TYPE 2; GS2
        Gene map locus 15q21

#607616 NIEMANN-PICK DISEASE, TYPE B
        NIEMANN-PICK DISEASE, TYPE E, INCLUDED
        Gene map locus 11p15.4-p15.1

#607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
        Gene map locus 17q21-q22, 12q13

%607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS

#607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2
        Gene map locus 12q13

 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES

%607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1

#607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
        BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY, INCLUDED
        Gene map locus 13q34

#607594 ICOS DEFICIENCY
        Gene map locus 2q33

%607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
        Gene map locus 19q

%607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24
        Gene map locus 13q14

 607578 BREATH-HOLDING SPELLS

#607572 LEPROSY, SUSCEPTIBILITY TO, 2
        Gene map locus 6q25.2-q27

 607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT

 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION

%607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES

#607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
        Gene map locus 11p15.5, 21q22.1

 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS

 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM

#607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
        Gene map locus 5q31

 607540 SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS

%607539 CAMPTOSYNPOLYDACTYLY, COMPLEX

#607523 TOENAIL DYSTROPHY, ISOLATED
        Gene map locus 3p21.3

%607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6
        MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED; FHM4, INCLUDED
        Gene map locus 1q31

%607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5
        Gene map locus 19p13

#607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO
        PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1
        Gene map locus 16q12, 6p21.3

 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA

%607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4
        Gene map locus 14q21.2-q22.3

%607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1
        Gene map locus 11p13, 10p

%607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3
        Gene map locus 6p21.1-p12.2

%607488 DYSTONIA 15, MYOCLONIC; DYT15
        Gene map locus 18p11

#607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N
        Gene map locus 17q12

#607486 KNOPS BLOOD GROUP SYSTEM; KN
        Gene map locus 1q32

#607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU
        APHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDED
        Gene map locus 17q21.32

#607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE
        Gene map locus 2q36.3

#607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M
        Gene map locus 11p15.1

#607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
        Gene map locus 15q26

#607475 BOTHNIA RETINAL DYSTROPHY
        Gene map locus 15q26

#607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
        Gene map locus 16p11.2

#607464 THYROID CARCINOMA, HURTHLE CELL
        Gene map locus 19p13.2-p13.1

#607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO
        SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED
        Gene map locus 15q25, 10q24

%607458 SPINOCEREBELLAR ATAXIA 18; SCA18
        Gene map locus 7q22-q32

#607457 GIL BLOOD GROUP
        Gene map locus 9p13

%607454 SPINOCEREBELLAR ATAXIA 21; SCA21

#607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44
        Gene map locus 3q28

#607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
        Gene map locus 6p24

%607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 11
        Gene map locus 11q24

%607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6
        Gene map locus 6q23-q25

#607432 LISSENCEPHALY 1; LIS1
        SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED
        Gene map locus 17p13.3

#607426 COENZYME Q10 DEFICIENCY
        Gene map locus 1q42.2, 10p12.1, 9p13.3, 6q21, 4q21-q22

#607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2
        Gene map locus 3p26.2

%607411 PATENT DUCTUS ARTERIOSUS

#607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2
        Gene map locus 21q22.1

 607395 STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY

%607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8
        Gene map locus 3q25-q27

#607371 DYSTONIA, JUVENILE-ONSET

#607364 BARTTER SYNDROME, TYPE 3
        BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
        Gene map locus 1p36

#607361 MECKEL SYNDROME, TYPE 3; MKS3
        Gene map locus 8q21.13-q22.1

%607354 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2; IS2
        Gene map locus 17p11.2

%607346 SPINOCEREBELLAR ATAXIA 19; SCA19
        Gene map locus 1p21-q21

#607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
        FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIA, INCLUDED
        Gene map locus 9q34

%607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1
        Gene map locus 16pter-p13, 3pter-p21

#607330 LATHOSTEROLOSIS
        Gene map locus 11q23.3

%607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3
        Gene map locus 2p25-p24

#607326 SMITH-MCCORT DYSPLASIA; SMC
        Gene map locus 18q12-q21.1

%607324 POLYDACTYLY, POSTAXIAL, TYPE A3
        Gene map locus 19p13.2-p13.1

#607323 DUANE-RADIAL RAY SYNDROME; DRRS
        Gene map locus 20q13.13-q13.2

#607322 CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
        Gene map locus 16q21

%607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4
        Gene map locus 1p36

#607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS
        OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED
        Gene map locus 11q23-q25

%607308 MAMMOGRAPHIC DENSITY

%607304 CATARACT, NUCLEAR PROGRESSIVE
        Gene map locus 2p12

%607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1
        Gene map locus 11q14

 607278 OSTEOFIBROUS DYSPLASIA

#607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
        Gene map locus 14q22.1

#607276 RESTING HEART RATE
        Gene map locus 10q24-q26

#607271 CASPASE 8 DEFICIENCY
        Gene map locus 2q33

#607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
        Gene map locus 16q24.3

%607258 HYPERCALCIURIA, ABSORPTIVE, 1
        Gene map locus 4q33-qter

#607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1
        Gene map locus 14q31-q32

%607248 GLIOMA, FAMILIAL, 1
        Gene map locus 15q23-q26.3

%607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33
        Gene map locus 9q34.3

#607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION
        Gene map locus 20p13-p12.3

#607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
        Gene map locus 2q33

%607221 EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES
        Gene map locus 4p15

 607214 ANONYCHIA, TOTAL, WITH MICROCEPHALY

#607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
        EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES, INCLUDED; ICEGTC, INCLUDED
        Gene map locus 5q31.1-q33.1, 2q24

%607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5
        Gene map locus 15q11-q13

#607200 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
        Gene map locus 15q15.3

 607197 DEAFNESS, AUTOSOMAL RECESSIVE

#607196 MICROCEPHALY, AMISH TYPE; MCPHA
        Gene map locus 17q25.3

#607174 MENINGIOMA, FAMILIAL
        Gene map locus 10q23.31, 22q12.3-qter, 22q12.2

 607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL

#607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I
        Gene map locus 19q13.3

#607154 ALLERGIC RHINITIS
        Gene map locus 5q31

%607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19
        Gene map locus 9q

%607151 MOYAMOYA DISEASE 2; MYMY2
        Gene map locus 17q25

#607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G
        Gene map locus 22q13.33

#607140 ANGIOID STREAKS

#607136 SPINOCEREBELLAR ATAXIA 17; SCA17
        Gene map locus 6q27

%607135 CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS
        Gene map locus 3p

%607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3
        Gene map locus 13q21

#607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES
        Gene map locus 22q11.2-q12.2

 607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES

%607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES
        Gene map locus 15q26.1

%607116 ALZHEIMER DISEASE 8
        Gene map locus 20p

#607115 CINCA SYNDROME; CINCA
        Gene map locus 1q44

%607107 NASOPHARYNGEAL CARCINOMA 1
        Gene map locus 4p15.1-q12

#607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
        Gene map locus 10p11.1

#607095 ANAUXETIC DYSPLASIA
        Gene map locus 9p21-p12

#607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
        Gene map locus 9p13

%607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3
        Gene map locus 11q13

%607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2
        Gene map locus 5q13-q14

%607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1
        ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED
        Gene map locus 11q23.3-q24

%607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA
        Gene map locus 6p21.3

#607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31
        Gene map locus 9q32-q34

#607080 GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY
        GONADAL DYSGENESIS, 46,XY, PURE, WITH MINIFASCICULAR NEUROPATHY, INCLUDED
        Gene map locus 12q13.1

#607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
        Gene map locus 2p24-p23

#607060 PARKINSON DISEASE 8; PARK8
        Gene map locus 12q12

%607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
        Gene map locus 8q23

 607044 T-BOX 24

#607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22
        Gene map locus 16p12.2

%607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A
        Gene map locus 12p11.2-q12

%607017 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 21; DFNA21

#607016 SCHEIE SYNDROME
        Gene map locus 4p16.3

#607015 HURLER-SCHEIE SYNDROME
        Gene map locus 4p16.3

#607014 HURLER SYNDROME
        Gene map locus 4p16.3

%607004 BRACHYDACTYLY, TYPE A1, B
        Gene map locus 5p13.3-p13.2

#606996 SENIOR-LOKEN SYNDROME 4; SLSN4
        Gene map locus 1p36

%606995 SENIOR-LOKEN SYNDROME 3; SLSN3
        Gene map locus 3q22

%606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2

%606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2
        Gene map locus 14q23

%606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1; EIG1
        Gene map locus 8q24

#606966 NEPHRONOPHTHISIS 4; NPHP4
        Gene map locus 1p36

%606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE
        PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED
        Gene map locus 14q32.1, 11q22-q23, 2q

%606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS
        Gene map locus 22q12.1-q12.2

#606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
        ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
        Gene map locus 11q14-q21

#606943 USHER SYNDROME, TYPE IG; USH1G
        Gene map locus 17q24-q25

%606937 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5
        Gene map locus 15q24-q26

%606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3
        Gene map locus 1p36

#606904 EPILEPSY, JUVENILE MYOCLONIC; JME
        Gene map locus 5q34-q35, 3q26-qter, 2q22-q23

%606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5
        Gene map locus 3p12-q13

 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH

 606894 DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY

 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS

#606889 ALZHEIMER DISEASE 4
        Gene map locus 1q31-q42

%606875 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7
        Gene map locus 19q12

%606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6
        Gene map locus 3p21

#606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
        Gene map locus 11q23, 1q21, 1p36.1-p35

#606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
        Gene map locus 8p23

#606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1
        Gene map locus 4q32.3

#606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
        Gene map locus 16q13

%606852 PARKINSON DISEASE 10; PARK10
        Gene map locus 1p

 606851 CREE MENTAL RETARDATION SYNDROME

#606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
        Gene map locus 20q12-q13.2

%606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS

 606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL

 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL

#606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM
        Gene map locus 22q13.1

#606812 FUMARASE DEFICIENCY
        Gene map locus 1q42.1

#606799 STROKE, SUSCEPTIBILITY TO, 1
        Gene map locus 5q12

#606798 BLEPHAROSPASM, BENIGN ESSENTIAL
        Gene map locus 4p16.1-p15.3

%606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4
        Gene map locus 8q

%606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1
        Gene map locus 13q14-q21, 11p13, 1p

%606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1
        Gene map locus 1p31

#606785 CRIGLER-NAJJAR SYNDROME, TYPE II
        Gene map locus 2q37

#606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
        Gene map locus 1p35-p31.3

 606773 HEMIFACIAL MYOHYPERPLASIA

 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES

%606771 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14
        Gene map locus Chr.14

%606770 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5
        Gene map locus Chr.5

#606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
        Gene map locus 2p13.3-p13.1

%606766 AZOOSPERMIA, NONOBSTRUCTIVE
        Gene map locus 6p21.3

#606764 GASTROINTESTINAL STROMAL TUMOR; GIST
        Gene map locus 4q12, 4q12

%606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2
        Gene map locus 19q13.3-qter

#606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
        Gene map locus 10q23.3

 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS

%606744 SECKEL SYNDROME 2; SCKL2
        Gene map locus 18p11.31-q11.2

 606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION

#606719 MELANOMA-PANCREATIC CANCER SYNDROME
        Gene map locus 9p21

%606713 VAN DER WOUDE SYNDROME 2
        Gene map locus 1p34

%606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2
        Gene map locus 19q

%606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1
        Gene map locus 16q

%606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
        Gene map locus 2q31

#606705 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36
        Gene map locus 9q13-q21

%606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

#606693 KUFOR-RAKEB SYNDROME; KRS
        Gene map locus 1p36

#606690 LYMPHANGIOLEIOMYOMATOSIS; LAM
        Gene map locus 16p13.3, 9q34

%606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B
        Gene map locus 2cen-q13

#606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
        Gene map locus 20pter-p12

#606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L
        Gene map locus 5q33

%606675 INFLAMMATORY BOWEL DISEASE 4; IBD4
        Gene map locus 14q11-q12

%606674 INFLAMMATORY BOWEL DISEASE 6; IBD6
        Gene map locus 19p13

%606668 INFLAMMATORY BOWEL DISEASE 8; IBD8
        Gene map locus 16p

#606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY
        Gene map locus 6p12

%606662 WAARDENBURG SYNDROME, TYPE IIC
        Gene map locus 8p23

%606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2
        Gene map locus 3p25.2-p25.1

%606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1
        Gene map locus 3q24-q26

#606658 SPINOCEREBELLAR ATAXIA 15; SCA15
        SPINOCEREBELLAR ATAXIA 16, FORMERLY; SCA16, FORMERLY
        Gene map locus 3p26-p25, 3p26.1-p25.3

#606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
        Gene map locus 10p15-p14, 3q28-q29

%606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2

%606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13
        Gene map locus 13q14

%606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7
        Gene map locus 7q32.3

#606641 BODY MASS INDEX
        Gene map locus 20pter-p11.2, 16p13, 13q14, 11q24, 7q32.3, 6q23-q25

%606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3
        Gene map locus 18q21

 606632 ODOR, MALE, WOMEN'S CHOICE OF

%606631 CAMURATI-ENGELMANN DISEASE, TYPE II

#606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS
        Gene map locus 18q12.1-q12.2

%606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6
        Gene map locus 18p11.2

%606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; HDLCQ1
        Gene map locus 9p

#606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C
        Gene map locus 19q13.3

#606606 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
        Gene map locus 1q25

#606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
        Gene map locus 7q11.23

#606593 LIG4 SYNDROME
        Gene map locus 13q22-q34

 606581 POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO

#606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1
        Gene map locus 17p13

#606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4
        Gene map locus 5p13.3

%606554 EPISODIC ATAXIA, TYPE 3; EA3
        Gene map locus 1q42

%606552 EPISODIC ATAXIA, TYPE 4; EA4

%606545 ICHTHYOSIS, LAMELLAR, 5; LI5
        Gene map locus 17p13.2-p13.1

 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE

#606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME

 606527 MEGARBANE SYNDROME

 606519 PHACE ASSOCIATION

%606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
        Gene map locus 10q24.1-q25.1

#606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B
        CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED
        Gene map locus 19p13.2

%606460 LONGEVITY 1
        Gene map locus 4q25

%606451 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 30; DFNA30
        Gene map locus 15q25-q26

 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

#606438 HUNTINGTON DISEASE-LIKE 2; HDL2
        Gene map locus 16q24.3

#606437 MYOKYMIA WITH NEONATAL EPILEPSY
        MYOKYMIA 2, INCLUDED
        Gene map locus 20q13.3

%606415 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH THYROID DISEASE
        Gene map locus 2p

#606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY
        Gene map locus 6p21.3

#606407 HYPOTONIA-CYSTINURIA SYNDROME
        HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED
        Gene map locus 2p16.3

#606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6

#606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4

#606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY

#606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE
        Gene map locus 4q21.3

#606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF

#606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
        Gene map locus 2q33

 606349 GAMBLING, PATHOLOGIC

%606348 INFLAMMATORY BOWEL DISEASE 5; IBD5
        Gene map locus 5q31

#606346 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22
        DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED
        Gene map locus 6q13

%606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL
        Gene map locus 6q21

#606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
        Gene map locus 1p36

%606282 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 24; DFNA24
        Gene map locus 4q35-qter

%606263 PAGET DISEASE OF BONE 4; PDB4
        Gene map locus 5q31

%606258 STATURE QUANTITATIVE TRAIT LOCUS 4
        Gene map locus 13q32-q33

%606257 STATURE QUANTITATIVE TRAIT LOCUS 3
        Gene map locus 12p11.2-q14

%606256 STATURE QUANTITATIVE TRAIT LOCUS 2
        Gene map locus 7q31.3

%606255 STATURE AS A QUANTITATIVE TRAIT
        STATURE QUANTITATIVE TRAIT LOCUS 1, INCLUDED; STQTL1, INCLUDED
        Gene map locus 6q24-q25, 2q21

#606243 ALVEOLAR SOFT-PART SARCOMA; ASPS
        Gene map locus 17q25

 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM

%606240 THYROID CARCINOMA, NONMEDULLARY 1
        Gene map locus 2q21

#606232 CHROMOSOME 22q13.3 DELETION SYNDROME
        Gene map locus 22q13.3

 606220 MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS

#606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2
        ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED
        Gene map locus 3p25.3

%606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1
        Gene map locus 1p31-p21

 606190 MENINGIOMA, RADIATION-INDUCED
        Gene map locus 1p11

%606187 ALZHEIMER DISEASE 7
        Gene map locus 10p13

 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY

 606179 ANEURYSMAL BONE CYSTS
        Gene map locus 16q22

 606177 PARS PLANITIS

#606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
        DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
        Gene map locus 11p15.1, 11p15.1, 7p15-p13

 606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY

 606174 BACULUM, CONGENITAL ABSENCE OF

%606170 GENITOPATELLAR SYNDROME

%606164 DIAMOND-BLACKFAN ANEMIA WITH MICROTIA AND CLEFT PALATE

%606163 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION

#606159 BASAL GANGLIA DISEASE, ADULT-ONSET
        Gene map locus 19q13.3-q13.4

 606156 SENER SYNDROME

 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES

%606129 DIAMOND-BLACKFAN ANEMIA 2
        Gene map locus 8p23.3-p22

%606082 GOITER, MULTINODULAR 3; MNG3
        Gene map locus 3q26.1-q26.3

#606072 RIPPLING MUSCLE DISEASE; RMD
        RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED
        Gene map locus 1q41, 3p25

%606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
        Gene map locus 12q23-q24

%606070 MYOPATHY, DISTAL 2; MPD2
        Gene map locus 5q

#606069 HEMOCHROMATOSIS, TYPE 4; HFE4
        Gene map locus 2q32

%606068 RETINITIS PIGMENTOSA 28; RP28
        Gene map locus 2p15-p11

#606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B
        Gene map locus 2p13-p12

#606054 PROPIONIC ACIDEMIA
        Gene map locus 13q32, 3q21-q22

%606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5
        Gene map locus 2q

%606049 ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA
        Gene map locus Chr.11

%606035 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1
        Gene map locus 6q22-q24

%606012 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18
        Gene map locus 3q22

#606003 TRANSALDOLASE DEFICIENCY
        Gene map locus 11p15.5-p15.4

#606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
        Gene map locus 9q34

#605990 URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO
        Gene map locus 10q21.2

%605982 FAMILIAL WILMS TUMOR 2

%605967 ACROPECTORAL SYNDROME
        Gene map locus 7q36

%605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE

 605945 CRUMPLED HELICES AND SMALL MOUTH

 605944 LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY

 605935 ARTHROPATHY, EROSIVE

%605934 HOLOPROSENCEPHALY 6
        Gene map locus 2q37.1-q37.3

%605913 BLEEDING DISORDER, EAST TEXAS TYPE
        Gene map locus 1q23

#605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF
        Gene map locus 1p13-p12

#605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6
        PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 1p36

#605899 GLYCINE ENCEPHALOPATHY; GCE
        HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
        Gene map locus 16q24, 9p22, 3p21.2-p21.1

%605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING

#605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD
        Gene map locus 5q12.2-q12.3

%605845 DERMATITIS, ATOPIC, 6; ATOD6
        Gene map locus 5q31-q33

%605844 DERMATITIS, ATOPIC, 5; ATOD5
        Gene map locus 13q12-q14

%605841 NARCOLEPSY 2
        Gene map locus 4p13-q21

#605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY
        Gene map locus 1q42.1

 605838 BABY RATTLE PELVIS DYSPLASIA

%605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2
        Gene map locus 1q21-q23

%605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT

 605822 SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE

#605820 NONAKA MYOPATHY; NM
        Gene map locus 9p12-p11

%605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27
        Gene map locus 2q23-q31

#605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET
        Gene map locus 7q21.3

%605809 MYASTHENIA, FAMILIAL INFANTILE, 1
        Gene map locus 17p13

 605808 BIRDSHOT CHORIORETINOPATHY

#605805 DERMATITIS, ATOPIC, 4; ATOD4
        Gene map locus 17q25.3

%605804 DERMATITIS, ATOPIC, 3; ATOD3
        Gene map locus 20p

#605803 DERMATITIS, ATOPIC, 2; ATOD2
        Gene map locus 1q21

 605756 GONADAL DYSGENESIS, HYPERGONADOTROPIC, XX TYPE, SHORT STATURE, AND RECURRENT METABOLIC ACIDOSIS

%605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
        Gene map locus 16p12-q12

%605750 EXUDATIVE VITREORETINOPATHY 3; EVR3
        Gene map locus 11p13-p12

%605749 CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT
        Gene map locus 9q13-q22

%605746 ANISOMASTIA
        Gene map locus 16q13-q21

%605738 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2
        Gene map locus 15q12-q15

%605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY

%605728 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES
        Gene map locus 15q21-q22

%605727 OTOSCLEROSIS 2; OTSC2
        Gene map locus 7q34-q36

%605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2
        Gene map locus 9p21.1-p12

#605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1
        Gene map locus 13q12.3

#605714 AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE
        OCCIPITAL CALCIFICATIONS, FAMILIAL, WITH HEMORRHAGIC STROKES, LEUKOENCEPHALOPATHY, ARTERIAL DYSPLASIA, AND DEMENTIA, INCLUDED
        Gene map locus 21q21

%605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME
        Gene map locus 2p14-p13

 605709 GLUTAMATE TRANSPORTER EAAC1-ASSOCIATED PROTEIN

 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS

#605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
        Gene map locus 6p24

 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM

#605670 LATE-ONSET RETINAL DEGENERATION; LORD
        Gene map locus 11q23.3

%605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA
        Gene map locus 1q21

#605637 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3
        Gene map locus 17p13.1

%605635 HYPERALDOSTERONISM, FAMILIAL, TYPE II
        Gene map locus 7p22

%605627 CEREBROOCULONASAL SYNDROME

 605618 TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE

%605606 PSORIASIS SUSCEPTIBILITY 7
        Gene map locus 1p

%605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18
        Gene map locus 5q31.1-q33.1

#605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
        Gene map locus 4q21.3

%605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2
        Gene map locus 19q13.3

#605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
        Gene map locus 1q21.2

%605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25
        Gene map locus 12q21-q24

%605582 CARDIOMYOPATHY, DILATED, 1K; CMD1K
        Gene map locus 6q12-q16

%605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2
        Gene map locus 17p12

%605552 ABDOMINAL OBESITY-METABOLIC SYNDROME
        ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED
        Gene map locus 4q22-q24, 3q27

%605549 CONE-ROD DYSTROPHY 8; CORD8
        Gene map locus 1q12-q24

%605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2
        Gene map locus 5q13-q22

#605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4
        Gene map locus 4q21

%605526 ALZHEIMER DISEASE 6
        PLASMA BETA-AMYLOID-42 LEVEL, QUANTITATIVE TRAIT LOCUS, INCLUDED
        Gene map locus 10q24

%605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3
        Gene map locus 4p16-p15.2

#605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2

#605472 USHER SYNDROME, TYPE IIC; USH2C
        Gene map locus 5q14

 605463 RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT
        Gene map locus 14q11.2

#605462 BASAL CELL CARCINOMA, MULTIPLE
        BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED
        Gene map locus 9q22.3, 1p32

#605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA
        Gene map locus 7p15-p14.2

%605429 DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1
        Gene map locus 1q24

%605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26
        Gene map locus 4q31

%605419 SCHIZOPHRENIA 10; SCZD10
        Gene map locus 15q15

#605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE

 605400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND MENTAL RETARDATION

%605389 HYPOTRICHOSIS SIMPLEX
        Gene map locus 18p11.3, 18p11.32-p11.23

%605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE
        Gene map locus 9p12-q12

#605387 CATARACT, POSTERIOR POLAR, 3; CTPP3
        Gene map locus 20q11.21

#605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL
        Gene map locus 2q21.1

#605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3
        Gene map locus 1q21

#605373 PARAGANGLIOMAS 3; PGL3
        Gene map locus 1q21

%605365 BREAST CANCER 3; BRCA3
        Gene map locus 13q21

%605364 PSORIASIS SUSCEPTIBILITY 6
        Gene map locus 19p13

#605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J
        Gene map locus 6q23

#605361 SPINOCEREBELLAR ATAXIA 14; SCA14
        Gene map locus 19q13.4

#605355 NEMALINE MYOPATHY 5; NEM5
        Gene map locus 19q13.4

 605321 FRONTOOCULAR SYNDROME

#605316 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10
        Gene map locus 21q22.3

 605311 ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS

#605309 MACROCEPHALY/AUTISM SYNDROME

%605293 OPTIC ATROPHY 4; OPA4
        Gene map locus 18q12.2-q12.3

#605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
        Gene map locus 3q27

 605288 PRIMORDIAL GERM CELL TUMOR SUSCEPTIBILITY LOCUS 1

%605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
        Gene map locus 10q23.2

 605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

#605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13
        Gene map locus 2q33.1

%605275 NOONAN SYNDROME 2

 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE

#605259 SPINOCEREBELLAR ATAXIA 13; SCA13
        Gene map locus 19q13.3-q13.4

#605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
        Gene map locus 12p13

#605253 NEUROPATHY, CONGENITAL HYPOMYELINATING
        Gene map locus 1q22, 10q21.1-q22.1

#605249 SEBASTIAN SYNDROME; SBS
        Gene map locus 22q11.2

%605244 CARNEY COMPLEX, TYPE II; CNC2
        Gene map locus 2p16

%605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE

%605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14
        Gene map locus 3q27-q28

%605225 INFLAMMATORY BOWEL DISEASE 7; IBD7
        Gene map locus 1p36

#605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2
        Gene map locus 2q37.3

 605203 MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE

%605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3
        Gene map locus 11q23.3

#605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
        Gene map locus 14q23

#605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA
        Gene map locus 16q13

 605130 GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM

#605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
        Gene map locus 4q31.1

 605105 EARLY RESPONSE TO NEURAL INDUCTION GENE

%605075 RENAL CELL CARCINOMA, PAPILLARY, 3
        Gene map locus 17q21.32

#605074 RENAL CELL CARCINOMA, PAPILLARY
        Gene map locus 1q21, 7q31, Xp11.22

 605067 TRICUSPID ATRESIA

%605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY

#605041 BROOKE-SPIEGLER SYNDROME; BSS
        Gene map locus 16q12-q13, 16q12-q13

 605040 CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA

#605039 C-LIKE SYNDROME
        Gene map locus 3q13.13

 605037 KINESIN FAMILY MEMBER 17; KIF17

 605028 LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF

#605027 LYMPHOMA, NON-HODGKIN, FAMILIAL
        Gene map locus 10q22, 2q33-q34

 605026 DIABETES MELLITUS, CONGENITAL AUTOIMMUNE

%605021 MYOCLONIC EPILEPSY, INFANTILE
        Gene map locus 16p13

%605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
        Gene map locus 3p22-p21.1

%605013 MICROHYDRANENCEPHALY; MHAC
        Gene map locus 16p13.3-p12.1

#604968 PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@
        Gene map locus 5q31

#604967 PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@
        Gene map locus 5q31

#604966 PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@
        Gene map locus 5q31

#604931 CORTISONE REDUCTASE DEFICIENCY
        Gene map locus 1q32-q41, 1p36

#604929 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3
        Gene map locus 1q21.2

#604928 WOLFRAM SYNDROME 2; WFS2
        Gene map locus 4q22-q24

 604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA

 604919 BECKER NEVUS SYNDROME

 604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION

#604906 SCHIZOPHRENIA 9; SCZD9
        Gene map locus 1q42.1, 1q23.3

#604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC
        Gene map locus 16q22

 604893 ANTISENSE IGF2R

#604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA

 604856 LANGERHANS CELL HISTIOCYTOSIS

 604855 HYALURONAN METABOLISM, DEFECT IN

#604841 STICKLER SYNDROME, TYPE II; STL2
        Gene map locus 1p21

 604830 MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE

%604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2
        Gene map locus 15q14

%604809 PANBRONCHIOLITIS, DIFFUSE
        Gene map locus 6p21.3

%604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12
        Gene map locus 19q13

#604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3
        Gene map locus 9q33.3

%604802 HUNTINGTON DISEASE-LIKE 3; HDL3
        Gene map locus 4p15.3

%604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B
        Gene map locus 1q42

%604781 ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE; NNCI
        Gene map locus 19p13.2-p13.1

#604777 ICHTHYOSIS, LAMELLAR, 3; LI3
        Gene map locus 19p13.12

#604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1
        Gene map locus 1q42.1-q43

 604771 POLYCYSTIC BONE DISEASE

#604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I
        Gene map locus 2q35

#604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2
        Gene map locus 5q34-q35

#604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20
        Gene map locus 17q25.3

#604715 ORTHOSTATIC INTOLERANCE
        Gene map locus 16q12.2

 604690 GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA

#604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3
        Gene map locus 14q12-q13

 604622 AORTIC ANEURYSM, GIANT CONGENITAL

%604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
        Gene map locus 13q

 604588 NEVER IN MITOSIS GENE A-RELATED KINASE 1; NEK1

#604571 BARE LYMPHOCYTE SYNDROME, TYPE I
        Gene map locus 6p21.3, 6p21.3, 6p21.3

#604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2
        CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED
        Gene map locus 11p15

%604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B
        Gene map locus 19q13.2-q13.3

%604547 VAN DER WOUDE SYNDROME MODIFIER
        Gene map locus 17p11.2-p11.2

#604537 LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5
        Gene map locus 6q14.1

#604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
        Gene map locus 1q32

%604519 INFLAMMATORY BOWEL DISEASE 3; IBD3
        Gene map locus 6p

%604499 HYPERLIPIDEMIA, COMBINED, 2
        Gene map locus 11p

#604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
        Gene map locus 1p34

%604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
        Gene map locus 3q13.1

 604474 HUMAN HERPESVIRUS TYPE 6, INTEGRATED

 604462 SEMAPHORIN 4C; SEMA4C

%604454 WELANDER DISTAL MYOPATHY; WDM
        Gene map locus 2p13

 604451 BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC

%604442 NONPAPILLARY RENAL CARCINOMA 1
        Gene map locus 3p12

#604432 SPINOCEREBELLAR ATAXIA 11; SCA11
        Gene map locus 15q15.2

%604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE

#604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
        Gene map locus 15q24-q25.1

#604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3
        Gene map locus 2q24

%604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6
        Gene map locus 10p14-p12

#604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
        Gene map locus 3p21.3, 3p25

#604393 LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4
        Gene map locus 17p13.1

#604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
        Gene map locus 11q21

#604387 NEPHRONOPHTHISIS 3; NPHP3
        Gene map locus 3q22

 604382 LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA

 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES

 604380 ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA

#604379 HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH
        Gene map locus 3q27-q28

#604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
        Gene map locus 22q13

#604370 OVARIAN CANCER, EPITHELIAL
        ADENOCARCINOMA, OVARIAN, INCLUDED
        Gene map locus 14q32.3, 11q25, 6q25.2-q27, 3q26.3

#604369 SIALURIA, FINNISH TYPE
        Gene map locus 6q14-q15

#604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3
        Gene map locus 7q11.23-q21.11, 3p25

%604364 EPILEPSY, PARTIAL, WITH VARIABLE FOCI
        Gene map locus 22q11-q12

 604363 MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS

#604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
        Gene map locus 15q21.1

%604356 DUANE RETRACTION SYNDROME 2
        Gene map locus 2q31

#604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4
        Gene map locus 5q14

#604348 ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
        Gene map locus 2q37.3

 604335 REFLEX SYMPATHETIC DYSTROPHY

%604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2
        Gene map locus 15q

#604326 SPINOCEREBELLAR ATAXIA 12; SCA12
        Gene map locus 5q31-q33

 604324 ACNE, ADULT

%604321 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4; MCPH4
        Gene map locus 15q15-q21

#604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
        Gene map locus 11q13.2-q13.4

%604317 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2; MCPH2
        Gene map locus 19q13.1-q13.2

%604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5
        Gene map locus 3q21

 604315 ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION SYNDROME

 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION

#604308 MASS SYNDROME
        Gene map locus 15q21.1

#604307 CATARACT, COPPOCK-LIKE; CCL
        Gene map locus 2q33-q35, 22q11.2-q12.2

#604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE
        Gene map locus 22q11.2

#604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
        Gene map locus 3q27

 604291 ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO

#604290 ACERULOPLASMINEMIA
        HYPOCERULOPLASMINEMIA, INCLUDED
        Gene map locus 3q23-q24

%604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H
        Gene map locus 2q14-q22

 604287 CARNEY TRIAD

#604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
        Gene map locus 4q12

#604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
        Gene map locus 4q21

#604273 ATPAF2 DEFICIENCY
        Gene map locus 17p11.2

#604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL
        Gene map locus 17q22-q24, 3q26.3, Ypter-p11.2

 604257 CAMERA-MARUGO-COHEN SYNDROME

%604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3
        Gene map locus 2p16-p15

#604250 HEMOCHROMATOSIS, TYPE 3; HFE3
        Gene map locus 7q22

#604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+
        GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, INCLUDED
        Gene map locus 19q13.1, 5q31.1-q33.1, 2q24, 2q23-q24.3

#604232 LEBER CONGENITAL AMAUROSIS, TYPE III
        Gene map locus 14q23.3

#604229 PETERS ANOMALY
        Gene map locus 2p22-p21

#604219 CATARACT, AUTOSOMAL DOMINANT
        Gene map locus 12q13, 3q21-q25

#604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
        Gene map locus 3q26

%604213 CHUDLEY-MCCULLOUGH SYNDROME

 604211 HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY

%604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION
        Gene map locus 6q22-q23

#604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10
        Gene map locus 12q13

%604185 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP2
        Gene map locus 10q21.3-q22.1

 604183 CHOLESTEATOMA, CONGENITAL

%604173 POIKILODERMA WITH NEUTROPENIA; PN

 604172 CARONTE

#604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1
        Gene map locus 18q12.1-q12.2

#604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
        Gene map locus 18q23

 604154 ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES

#604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G
        Gene map locus 2q31

#604131 THALASSEMIAS

#604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA
        Gene map locus 3p21.3

 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY

#604117 VOHWINKEL SYNDROME, VARIANT FORM
        Gene map locus 1q21

#604116 CONE-ROD DYSTROPHY 3; CORD3
        Gene map locus 1p21-p13

 604093 KERATOSIS PILARIS

#604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY
        Gene map locus 11q23, 9q22-q31

%604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20
        Gene map locus 11q25-qter

#604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC
        Gene map locus 22q13.33

#603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2
        Gene map locus 11q21-q22

%603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16
        Gene map locus 2q23-q24.3

#603956 CERVICAL CANCER
        Gene map locus 4p16.3

%603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4
        Gene map locus 1q21

#603933 DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO
        Gene map locus 17q23

#603932 INTERVERTEBRAL DISC DISEASE; IDD
        LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED
        Gene map locus 20q11.2-q13.1, 15q22, 9q21.3-q22, 1p21, 6q27, 1p33-p32.2, 20q13.3

%603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1
        Gene map locus 17q

#603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A
        Gene map locus 2q33-q34

#603903 SICKLE CELL ANEMIA

#603902 BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE
        Gene map locus 11p15.5

#603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
        VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED
        Gene map locus 14q24, Chr.12, 1p34.1, 3q27, 2p23.3

#603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
        Gene map locus 16p12.3

%603855 CYSTIC FIBROSIS MODIFIER 1; CFM1
        Gene map locus 19q13.2-q13.4

#603830 LONG QT SYNDROME 3; LQT3
        LONG QT SYNDROME 2/3, INCLUDED; LQT2/3, INCLUDED
        Gene map locus 3p21

#603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF
        Gene map locus 3p21

 603828 BRITTLE BONE DISORDER

#603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
        Gene map locus 1p36-p35

 603807 PETERS ANOMALY WITH CATARACT
        Gene map locus 11p13

 603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO

%603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN

 603794 HYDROA VACCINIFORME, FAMILIAL

%603786 STARGARDT DISEASE 4; STGD4
        Gene map locus 4p

%603783 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1

#603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
        Gene map locus 1p34.1-p32

 603744 PAPILLARY THYROID MICROCARCINOMA

 603740 ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA

 603737 OVARIAN GERM CELL CANCER

 603736 YOUNG-SIMPSON SYNDROME

#603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16
        Gene map locus 15q15

%603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3
        Gene map locus 20q12-q13.1

#603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF
        Gene map locus 2q31

#603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
        Gene map locus 1p36.1-p35

%603678 DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14
        Gene map locus 7q31

%603671 ACROMELIC FRONTONASAL DYSOSTOSIS

 603670 BLUE NEVI, FAMILIAL MULTIPLE

 603669 ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES

 603664 MENTAL HEALTH WELLNESS 2
        Gene map locus 4q

%603663 MENTAL HEALTH WELLNESS 1
        Gene map locus 4p

 603656 EXOSTOSIS, DUPUYTREN SUBUNGUAL

%603649 CONE-ROD DYSTROPHY 7; CORD7
        Gene map locus 6q12-q13

 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS

 603642 ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS

 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA

#603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21
        Gene map locus 11q22-q24

#603622 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17
        COCHLEOSACCULAR DEGENERATION, INCLUDED
        Gene map locus 22q11.2

 603600 OSTEOMA OF CRANIAL VAULT, FAMILIAL

#603596 POLYDACTYLY

 603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS

 603592 XANTHINURIA, TYPE II

 603589 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION

 603588 PAROTITIS, JUVENILE RECURRENT

 603587 FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS

#603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F
        Gene map locus 6q15

 603572 MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION

 603569 TRACHEOBRONCHIAL STENOSIS, CONGENITAL

#603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8
        Gene map locus 8q24.13

#603554 OMENN SYNDROME
        Gene map locus 11p13, 11p13, 10p

#603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
        Gene map locus 10q22

#603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
        Gene map locus 6q24

%603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

#603543 LIMB-MAMMARY SYNDROME; LMS
        Gene map locus 3q27

 603530 LIGHT FIXATION SEIZURE SYNDROME

 603529 DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN

#603528 DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA
        Gene map locus 16q23-q24

 603523 CHYLOTHORAX, CONGENITAL

#603516 SPINOCEREBELLAR ATAXIA 10; SCA10
        Gene map locus 22q13

#603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
        Gene map locus 2q31

%603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D
        Gene map locus 7q

 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE

#603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
        Gene map locus 7q21.3

 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS

 603457 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA

 603446 OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE

 603439 EXPANSILE BONE LESIONS

 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION

 603396 TONOKI SYNDROME

 603394 MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS

 603393 OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS

 603391 LARYNGOTRACHEAL STENOSIS, PROGRESSIVE, WITH SHORT STATURE AND ARTHROPATHY

 603389 OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME

%603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2
        Gene map locus 20q13.11

 603387 MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT

%603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA
        Gene map locus 19p13.2

%603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F
        Gene map locus 7q35-q36

 603376 LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF

#603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL
        Gene map locus 14q31

#603358 GRACILE SYNDROME
        Gene map locus 2q33

#603342 SCHIZOPHRENIA 2; SCZD2
        Gene map locus 11q14-q21

 603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY

#603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3
        Gene map locus 3q26.1

#603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
        Gene map locus 7p13

 603282 ZINC FINGER PROTEIN 204; ZNF204
        ZINC FINGER PROTEIN 204 PSEUDOGENE, INCLUDED
        Gene map locus 6p21.3

#603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
        Gene map locus 19q13

%603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17
        Gene map locus 10q25

#603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB
        Gene map locus 20q13.2

%603221 MYOPIA 3; MYP3
        Gene map locus 12q21-q23

#603218 HUNTINGTON DISEASE-LIKE 1; HDL1
        Gene map locus 20pter-p12

 603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE; CMAH
        Gene map locus 6p22.3-p22.2

 603206 SCHIZOPHRENIA 8; SCZD8
        Gene map locus 18p

%603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 2
        Gene map locus 15q24

%603194 MECKEL SYNDROME, TYPE 2; MKS2
        Gene map locus 11q13

%603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P
        Gene map locus 10p

%603176 SCHIZOPHRENIA 7; SCZD7
        Gene map locus 13q32

%603175 SCHIZOPHRENIA 5; SCZD5
        Gene map locus 6q23.2

#603174 HOMOCYSTEINEMIA

%603165 DERMATITIS, ATOPIC
        DERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED
        Gene map locus 20p, 13q12-q14, 5q31-q33, 3q21

#603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C
        Gene map locus 1p22.3

 603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION

 603119 APRAXIA OF EYELID OPENING

 603117 SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL

%603116 CDAGS SYNDROME
        Gene map locus 22q12-q13

%603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13
        Gene map locus 7q34-q36

#603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
        Gene map locus 19q13.2, 1q24-q25, 10q25.3-q26.2, 6p21.3, 6p21.3

%603047 ASTIGMATISM

%603045 LOSS OF HETEROZYGOSITY, CHROMOSOME 18, REGION 1; LOH18CR1
        Gene map locus 18q21-q22

#603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
        MNGIE WITHOUT LEUKOENCEPHALOPATHY, INCLUDED
        Gene map locus 22q13.32-qter

%603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11
        Gene map locus 11q23

#603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD
        Gene map locus 3p25

%603013 SCHIZOPHRENIA 6; SCZD6
        Gene map locus 8p21, 8p22-p11

%603010 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 17; DFNB17
        Gene map locus 7q31

 603003 BILE DUCT CYSTS

%602966 OROFACIAL CLEFT 2; OFC2
        Gene map locus 2p13

#602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM
        ST. HELENA DYSPLASIA, INCLUDED
        Gene map locus 9p21-p12

#602849 MUENKE SYNDROME
        Gene map locus 4p16.3

%602782 HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS
        Gene map locus 11q25

%602772 RETINITIS PIGMENTOSA 25; RP25
        Gene map locus 6q14-q21

#602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1
        Gene map locus 1p36-p35

%602759 PROSTATE CANCER, HEREDITARY, 8
        Gene map locus 1q42.2-q43

%602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2
        Gene map locus 17q25

#602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
        RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED
        Gene map locus 7q33-q34

%602685 MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION
        Gene map locus 15q24

#602668 DYSTROPHIA MYOTONICA 2; DM2
        Gene map locus 3q13.3-q24

%602639 TOOTH AGENESIS, SELECTIVE, 2; STHAG2
        Gene map locus 16q12.1

%602629 DYSTONIA 6, TORSION; DYT6
        Gene map locus 8p21-q22

 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL

 602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE

 602611 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION

 602596 PANCREATIC LYMPHOMA, FAMILIAL

%602594 RETINITIS PIGMENTOSA 22; RP22
        Gene map locus 16p12.3-p12.1

#602588 BRANCHIOOTIC SYNDROME 1; BOS1

 602586 ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1

#602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE
        Gene map locus 2p24.1

#602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
        Gene map locus 15q22-qter

 602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION

 602562 MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA

 602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS

 602558 CRANIOMICROMELIC SYNDROME

 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

 602556 FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY

 602555 MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION

 602554 TORSION DYSTONIA WITH ONSET IN INFANCY

 602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION

 602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA

 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE

#602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
        Gene map locus 13q11-q12

 602535 MARSHALL-SMITH SYNDROME

 602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY

#602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
        BARTTER SYNDROME, TYPE 4, DIGENIC, INCLUDED
        Gene map locus 1p31, 1p36, 1p36

 602511 PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE

 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA

%602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM

 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL

#602491 HYPERLIPIDEMIA, COMBINED, 1
        Gene map locus 1q22-q23

#602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
        Gene map locus 7p15-p13

 602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS

%602483 AURICULOCONDYLAR SYNDROME

%602482 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND SENSORINEURAL HEARING LOSS

#602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
        MIGRAINE, FAMILIAL BASILAR, INCLUDED
        Gene map locus 1q21-q23

%602477 FEBRILE CONVULSIONS, FAMILIAL, 2; FEB2
        Gene map locus 19p13.3

#602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
        Gene map locus 6q22-q23, 21q22.3

#602473 ENCEPHALOPATHY, ETHYLMALONIC
        Gene map locus 19q13.32

 602472 CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE

 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES

#602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15
        Gene map locus 5q31

 602455 REGENERATION-ASSOCIATED SERPIN-1

#602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
        SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED
        Gene map locus 10p

%602440 AMYOTROPHY, MONOMELIC

%602439 ACUTE MYELOGENOUS LEUKEMIA
        ACUTE MYELOID LEUKEMIA CHROMOSOME REGION 2, INCLUDED; AMLCR2, INCLUDED
        Gene map locus 16q22

#602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4
        Gene map locus 9q34

%602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D
        Gene map locus 8q23

 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME

%602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3
        Gene map locus 2p13

 602401 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL RECESSIVE

 602400 ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS

#602398 DESMOSTEROLOSIS
        Gene map locus 1p33-p31.1

#602390 HEMOCHROMATOSIS, JUVENILE; JH
        HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN, INCLUDED
        Gene map locus 19q13, 1q21

 602361 GRACILE BONE DYSPLASIA

#602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3
        Gene map locus 7q21.1

 602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY

 602340 SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH

 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL

 602252 MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF

 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES

%602248 MALIGNANT ATROPHIC PAPULOSIS

%602247 XANTHOMATOSIS, SUSCEPTIBILITY TO

%602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY

%602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY

 602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
        Gene map locus 17q25

%602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES

 602152 RHYNS SYNDROME

%602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2
        Gene map locus 2p25-p22

%602124 DYSTONIA 7, TORSION; DYT7
        CERVICAL DYSTONIA, PRIMARY, INCLUDED
        Gene map locus 18p

 602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE

#602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II
        Gene map locus 11q22.3

 602107 NEUROPATHY, HEREDITARY THERMOSENSITIVE

%602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5
        Gene map locus 15q15.1-q21.1

%602097 USHER SYNDROME, TYPE IE; USH1E
        Gene map locus 21q21

%602096 ALZHEIMER DISEASE 5
        Gene map locus 12p11.23-q13.12

#602093 CONE DYSTROPHY 3; COD3
        Gene map locus 6p21.1

#602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18
        Gene map locus 11p15.1

%602089 HEMANGIOMA, CAPILLARY INFANTILE
        Gene map locus 5q35.3, 5q31-q33, 4q12

#602088 NEPHRONOPHTHISIS 2; NPHP2
        Gene map locus 9q31

%602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
        Gene map locus 2q32.1-q32.3

%602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3
        Gene map locus 14q12-q22

%602085 POLYDACTYLY, POSTAXIAL, TYPE A2
        Gene map locus 13q21-q32

#602083 USHER SYNDROME, TYPE IF; USH1F
        Gene map locus 10q21-q22

%602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2
        Gene map locus 10q24, 5q31

#602081 SPEECH-LANGUAGE DISORDER 1; SPCH1
        Gene map locus 7q31

#602080 PAGET DISEASE OF BONE; PDB
        Gene map locus 18q22.1, 5q35, 5q31

#602079 TRIMETHYLAMINURIA; TMAU
        Gene map locus 1q23-q25

#602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
        Gene map locus 11q13.3-q13.4

%602071 BROAD TERMINAL PHALANGES, FAMILIAL

 602068 LEISHMANIASIS, TEGUMENTARY

%602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F
        Gene map locus 6q23

%602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
        Gene map locus 16p12-q12

#602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
        Gene map locus 1q21

#602032 ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE
        Gene map locus 12q13

%602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20
        Gene map locus 20q13.11-q13.2

#602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
        HYPOMAGNESEMIA 1, INTESTINAL, INCLUDED; HOMG1, INCLUDED
        Gene map locus 9q22

%601992 FRIEDREICH ATAXIA 2
        Gene map locus 9p23-p11

 601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION

 601977 THROMBOCYTOSIS, BENIGN FAMILIAL MICROCYTIC

 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME

 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME

#601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
        Gene map locus 17q12

 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA

#601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10
        Gene map locus 10p15.1

%601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6
        Gene map locus 18q21

 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES

#601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2
        Gene map locus 1q32, 2q34

%601888 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6
        Gene map locus 5p

#601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
        Gene map locus 1q32

#601885 CATARACT, ZONULAR PULVERULENT 3; CZP3
        Gene map locus 13q11

#601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
        HIGH BONE MASS, INCLUDED; HBM, INCLUDED
        Gene map locus 11q13.4

 601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1

%601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15
        Gene map locus 3q

#601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13
        Gene map locus 6p21.3

#601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
        AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED
        Gene map locus 10q24.1

 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA

#601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2
        Gene map locus 2q24

%601846 VACUOLAR NEUROMYOPATHY
        Gene map locus 19p13.3

 601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE

#601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
        Gene map locus 11p15.1

 601816 BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM

#601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
        Gene map locus 1q12

#601813 EXUDATIVE VITREORETINOPATHY 4; EVR4
        Gene map locus 11q13.4

 601812 PREMATURE AGING SYNDROME, PENTTINEN TYPE

 601811 PREMATURE AGING SYNDROME, OKAMOTO TYPE

 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS

#601808 CHROMOSOME 18q DELETION SYNDROME

#601803 PALLISTER-KILLIAN SYNDROME; PKS

#601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3
        Gene map locus 11q14-q21

%601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME

#601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
        NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED; vLINCL, INCLUDED
        Gene map locus 15q21-q23

#601777 CONE-ROD DYSTROPHY 6; CORD6
        Gene map locus 17p13.1

%601776 ADDUCTED THUMB-CLUBFOOT SYNDROME

 601775 FOLATE LEVEL IN ERYTHROCYTES

%601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1
        Gene map locus 19q

 601759 PREAXIAL HALLUCAL POLYDACTYLY

#601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1
        SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED
        Gene map locus 1q41-q42, 1q41-q42

#601718 RETINITIS PIGMENTOSA 19; RP19
        Gene map locus 1p21-p13

%601709 QUEBEC PLATELET DISORDER; QPD

 601708 SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL

 601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT

#601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
        Gene map locus 22q13

#601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
        Gene map locus 17q11-q12

 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA

%601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE

 601696 NOVELTY SEEKING PERSONALITY TRAIT
        Gene map locus 11p15.5

%601694 LEPTIN, SERUM LEVELS OF
        Gene map locus 2p21

%601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C
        Gene map locus 3q21-q24

#601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
        Gene map locus 17p13.1, 11p15.5, 11p15.5, 9p13.2-p13.1

#601678 BARTTER SYNDROME, ANTENATAL, TYPE 1
        Gene map locus 15q15-q21.1

%601676 ACUTE INSULIN RESPONSE
        Gene map locus 1p31

#601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP
        ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
        Gene map locus 19q13.2-q13.3, 6p25.3, 2q21

 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION

%601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15
        Gene map locus 6q21

#601665 OBESITY
        LEANNESS, INCLUDED
        Gene map locus 20q13.2, 18q22, 16q22, 16q12.2, 1pter-p22.3, 11q13, 11q13, 10q, 10p, 8p12-p11.2, 6q22-q23, 6q16.3-q21, 5q33, 5q32-q34, 5q13.2, 4q31, 4p15-p14, 3p25, 3p26-p25, 1p36.1

%601650 PARAGANGLIOMAS 2; PGL2
        Gene map locus 11q13.1

#601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE
        SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED
        Gene map locus 14q24, 5p15.3-p15.2, 1q43

#601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1
        GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED
        Gene map locus 6p25

#601626 LEUKEMIA, ACUTE MYELOID; AML
        Gene map locus 19q13.1, 19p13.3, 16q22, 13q12, 12p13, 11q23.3, 11q14, 10p12, 9q34.1, 9p24, 8p12, 5q35, 5q35, 4q12, 4q11-q12, 3q28, 3q25.1, 3q24, 21q22.3

%601616 IRIS PIGMENT EPITHELIUM ANOMALIES

%601612 LUNG AGENESIS

 601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME

#601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1
        Gene map locus 16q12-q13

#601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C
        Gene map locus 5q32

#601588 EPIDERMAL DIFFERENTIATION COMPLEX; EDC

#601583 WILMS TUMOR 5; WT5
        Gene map locus 7p14-p13

 601563 HORNS IN SHEEP

 601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA

 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE

#601559 STUVE-WIEDEMANN SYNDROME
        Gene map locus 5p13.1

#601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
        Gene map locus 16q22.1

%601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM

#601551 BLOOD GROUP--FROESE

#601550 BLOOD GROUP--SWANN SYSTEM; SW

%601549 ALACRIMA

#601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
        Gene map locus 22q11.2-q12.2

#601544 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3
        Gene map locus 13q12, 13q11-q12

#601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12
        Gene map locus 11q22-q24

#601539 PEROXISOME BIOGENESIS DISORDERS; PBD

%601537 MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT

#601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS
        BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED
        Gene map locus 7p15.3

#601518 PROSTATE CANCER, HEREDITARY, 1; HPC1
        Gene map locus 1q25

%601499 RIEGER SYNDROME, TYPE 2; RIEG2
        Gene map locus 13q14

#601495 AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE
        AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL DOMINANT, INCLUDED
        Gene map locus 14q32.33, 9q34.13, 22q11.21

#601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D
        Gene map locus 1q32

#601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C
        CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION, INCLUDED
        Gene map locus 10q21-q23

#601492 HYALURONIDASE DEFICIENCY
        Gene map locus 3p21.3-p21.2

 601477 RIBBING DISEASE

#601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
        Gene map locus 7p15

%601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1
        Gene map locus 3q21-q22

 601466 PATENT DUCTUS VENOSUS; PDV

#601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS
        Gene map locus 17p12-p11, 17p13-p12, 2q33-q34, 2q24-q32

%601458 INFLAMMATORY BOWEL DISEASE 2; IBD2
        Gene map locus 12p13.2-q24.1

#601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
        Gene map locus 11p13, 11p13

#601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D
        Gene map locus 8q24.3

%601454 PSORIASIS SUSCEPTIBILITY 3; PSORS3
        Gene map locus 4q

 601453 TRICHODENTAL DYSPLASIA

 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS

#601451 NEVO SYNDROME
        Gene map locus 1p36.3-p36.2

 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM

 601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION

 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE

 601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS

 601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE

#601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
        Gene map locus 2q35

#601414 RETINITIS PIGMENTOSA 18; RP18
        Gene map locus 1q21.2

%601412 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 7; DFNA7
        Gene map locus 1q21-q23

%601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1
        Gene map locus 6q24, 6q24, 6q24

%601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2
        Gene map locus 12q24.2

#601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
        Gene map locus 21q22.3

 601390 CEREBROFACIOARTICULAR SYNDROME

 601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION

#601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12
        Gene map locus 2q33

#601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
        Gene map locus 10q21-q22, 3p26-p25

#601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1
        Gene map locus 11q22

 601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME

#601378 CRISPONI SYNDROME
        Gene map locus 19p12

 601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY

 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE

 601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS

 601372 CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT

 601371 CATARACT, AGE-RELATED NUCLEAR

 601370 HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS

#601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9
        Gene map locus 14q12-q13

#601367 STROKE, ISCHEMIC
        Gene map locus 14q22-q23, 13q12, 7q36

%601363 WILMS TUMOR 4
        Gene map locus 17q12-q21

%601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2
        Gene map locus 10p14-p13

 601360 AMELIA, AUTOSOMAL RECESSIVE

 601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY

 601358 NICOLAIDES-BARAITSER SYNDROME

 601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS

 601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE

 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS

 601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

 601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE

 601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION

 601350 SHORT STATURE SYNDROME, BRUSSELS TYPE

#601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8
        Gene map locus 6q21

 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA

 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY

 601346 GASTROINTESTINAL ABNORMALITIES, MULTIPLE

 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE

 601344 SPINAL DYSPLASIA, ANHALT TYPE

 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC

 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS

 601331 RENAL DYSPLASIA, DIFFUSE CYSTIC

 601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS

#601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS
        Gene map locus 17q11.2

 601319 ODONTOMICRONYCHIAL DYSPLASIA

%601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13
        Gene map locus 2q34

#601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11
        Gene map locus 11q13.5

#601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10
        Gene map locus 6q23

 601315 EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF

#601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
        Gene map locus 5q33

#601286 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
        Gene map locus 2q33-q35

#601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1
        Gene map locus 2q37.3

#601277 ICHTHYOSIS, LAMELLAR, 2; LI2
        Gene map locus 2q34

 601276 ZINC FINGER PROTEIN 177; ZNF177
        Gene map locus 3q29

%601251 RETINAL CONE DYSTROPHY 2
        Gene map locus 17p

#601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY
        Gene map locus 19p13.3

 601230 DERMATITIS HERPETIFORMIS, FAMILIAL

%601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1
        Gene map locus 15q15.3-q22.1

#601224 POTOCKI-SHAFFER SYNDROME
        Gene map locus 11p11.2

 601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B

 601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE

 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH

 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM

 601216 PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA

#601214 NAXOS DISEASE
        Gene map locus 17q21

%601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11
        Gene map locus 14q24.3-q31

%601202 CATARACT, ANTERIOR POLAR, 2; CTAA2
        Gene map locus 17p13

 601200 PLEUROPULMONARY BLASTOMA

 601195 IRON OVERLOAD IN AFRICA

 601187 GURRIERI SYNDROME

#601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
        Gene map locus 15q24.1

 601174 IMIDAZOLINE RECEPTOR

 601171 SERPIN-LIKE PROTEIN B43, BOVINE

 601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS

 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE

 601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL

%601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9
        Gene map locus 10q23.3-q24.1

 601161 TRISOMY 18-LIKE SYNDROME

 601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA

#601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E
        Gene map locus 3p21

#601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
        Gene map locus 1p36.2

#601144 BRUGADA SYNDROME 1
        Gene map locus 3p21

 601138 GUANYLYL CYCLASE, MEMBRANE, TYPE E; GUCY2E

 601137 GUANYLYL CYCLASE, MEMBRANE, TYPE D, MURINE

 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION

#601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D
        Gene map locus 3q27

#601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
        Gene map locus 17q21.1

%601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3
        Gene map locus 5q31.3-q32

#601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
        Gene map locus 16p13.3-p12

 601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC

 601095 HARROD SYNDROME

 601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION

%601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT
        Gene map locus 6p21

%601085 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT; RESDAD

 601083 CD4/CD8 T-CELL RATIO

 601076 MURCS ASSOCIATION

 601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION

#601072 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8
        Gene map locus 21q22.3

#601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9
        AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED; AUNB1, INCLUDED
        Gene map locus 2p23-p22

%601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1
        Gene map locus 8q24

#601067 USHER SYNDROME, TYPE ID; USH1D
        USHER SYNDROME, TYPE ID/F, INCLUDED
        Gene map locus 10q21-q22, 10q21-q22

%601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE
        Gene map locus 1p

 601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN

 601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES

 601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM

#601005 TIMOTHY SYNDROME; TS
        Gene map locus 12p13.3

 601004 PORTAL VEIN, CAVERNOUS TRANSFORMATION OF

#601003 BRODY MYOPATHY
        Gene map locus 16p12

#601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
        Gene map locus 17q12-q21

#600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
        Gene map locus 1q42.1-q43

#600995 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
        Gene map locus 1q25-q31

#600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5
        Gene map locus 7p15

 600991 HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE

 600989 INFUNDIBULOPELVIC DYSGENESIS

 600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES

#600977 CONE-ROD DYSTROPHY 5; CORD5
        Gene map locus 17p13-p12

%600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
        Gene map locus 1p36.2-p36.1

#600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7
        Gene map locus 9q13-q21

#600972 ACHONDROGENESIS, TYPE IB; ACG1B
        Gene map locus 5q32-q33.1

#600971 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6
        Gene map locus 3p21

#600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3
        EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED
        Gene map locus 20q13.3

#600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6
        Gene map locus 4p16.1

%600964 REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA
        Gene map locus 10pter-p11.2

#600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
        Gene map locus 17q12-q21, 12q13

#600955 PROPROTEIN CONVERTASE 1 DEFICIENCY
        Gene map locus 5q15-q21

 600952 TRANSSEXUALITY

 600931 PROTOCADHERIN 3

%600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS

#600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
        LONG QT SYNDROME 4, INCLUDED; LQT4, INCLUDED
        Gene map locus 4q25-q27

 600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS

 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS

 600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY

 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM

#600886 HYPERFERRITINEMIA-CATARACT SYNDROME
        Gene map locus 19q13.3-q13.4

%600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B
        Gene map locus 9q13

%600883 DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8
        Gene map locus 6q25-q27

#600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
        Gene map locus 3q21

#600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
        Gene map locus 17q11.1-q12

#600880 BUDD-CHIARI SYNDROME
        MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED
        Gene map locus 1q23, 9p24

 600878 RECEPTOR TYROSINE KINASE NSK2

#600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
        Gene map locus 7q36

#600852 RETINITIS PIGMENTOSA 17; RP17
        Gene map locus 17q23

 600851 MITOCHONDRIAL IMPORT-STIMULATING FACTOR

#600850 SCHIZOPHRENIA 4; SCZD4
        Gene map locus 22q11.2

%600808 ENURESIS, NOCTURNAL, 2; ENUR2
        Gene map locus 12q13-q21

#600807 ASTHMA, SUSCEPTIBILITY TO
        ASTHMA, PROTECTION AGAINST, INCLUDED
        Gene map locus 17q21.1-q21.2, 13q14.1, 11q12.3-q13.1, 10q11.2, 6p21.2-p12, 6p21.3, 6p21.3, 5q32-q34, 5q31.1-q33.1, 5q31-q34, 5q31, 4q13-q21, 2q22

#600803 GALLBLADDER DISEASE 1; GBD1
        Gene map locus 7q21.1

#600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
        Gene map locus 11q23, 5p13

 600801 ISOPROTERENOL-MEDIATED VASODILATATION

#600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
        Gene map locus 3p11.2

#600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5
        Gene map locus 11q13, 7p15

%600792 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5; DFNB5
        Gene map locus 14q12

#600791 ENLARGED VESTIBULAR AQUEDUCT; EVA
        Gene map locus 5q34

%600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
        Gene map locus 6q14-q16.2

%600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR

 600776 FRYNS MICROPHTHALMIA SYNDROME

 600775 LAMBDOID SYNOSTOSIS

%600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS

%600757 OROFACIAL CLEFT 3; OFC3
        Gene map locus 19q13

%600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3
        Gene map locus 19q13

#600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2
        Gene map locus 9p12-p11

 600736 VELOFACIOSKELETAL SYNDROME

#600721 D-2-@HYDROXYGLUTARIC ACIDURIA
        Gene map locus 2p25.3

 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA

 600705 SATOYOSHI SYNDROME

 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL

%600674 MICROTIA-ANOTIA

 600670 VARICELLA, SEVERE RECURRENT

#600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
        Gene map locus 18q21, 14q23, 9q32-q33, 8q24, 6q24-q25, 2q22-q23

%600668 CHONDROCALCINOSIS 1; CCAL1
        Gene map locus 8q

 600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3

#600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4
        Gene map locus 19q13.33

#600651 FRAGILE SITE 11B; FRA11B

#600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
        Gene map locus 1p32

#600648 NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE
        EPIDERMOLYTIC HYPERKERATOSIS, LINEAR FORM, INCLUDED
        Gene map locus 17q21-q22

 600643 CAROLI DISEASE, ISOLATED

%600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3
        FIBROSIS, CONGENITAL, OF VERTICALLY ACTING EXTRAOCULAR MUSCLES, INCLUDED
        Gene map locus 16q24.2-q24.3

#600634 PITUITARY ADENOMA, PROLACTIN-SECRETING
        Gene map locus 11q13.3

%600631 ENURESIS, NOCTURNAL, 1; ENUR1
        Gene map locus 13q13-q14.3

#600630 UV-SENSITIVE SYNDROME; UVS

 600628 LOOSE ANAGEN HAIR SYNDROME

 600627 HYPERTRYPTOPHANEMIA, FAMILIAL

 600625 CLEFT LIP, CONGENITAL HEALED

%600624 CONE-ROD DYSTROPHY 1; CORD1
        Gene map locus 18q21.1-q21.3

 600598 SETTING-SUN PHENOMENON, FAMILIAL BENIGN

%600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA
        Gene map locus 4p16

 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY

 600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS

 600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY

#600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
        Gene map locus 20q13.2-q13.3

#600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE
        Gene map locus 10q24

%600511 SCHIZOPHRENIA 3; SCZD3
        Gene map locus 6p23

%600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME
        Gene map locus 7q35-q36

#600501 ABCD SYNDROME
        Gene map locus 13q22

#600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
        Gene map locus 12q24.2

%600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4
        Gene map locus 3q13.1

#600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA
        Gene map locus 12q24.33

 600461 HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES

 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY

 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS

 600458 ADENOMYOSIS

 600457 HYPERTRICHOSIS, ANTERIOR CERVICAL

%600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
        Gene map locus 2q37

 600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS

 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL

%600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, DYSPLASTIC NAILS

%600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV

%600383 MESOMELIA-SYNOSTOSES SYNDROME

#600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2
        HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION, INCLUDED
        Gene map locus 12q11-q14

 600373 CODAS SYNDROME

#600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6
        Gene map locus 15q11.1

%600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V

%600360 APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE

 600356 PACHYDERMODACTYLY, FAMILIAL

 600351 ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY

 600348 BAND HETEROTOPIA OF BRAIN

 600347 BREVICAN

%600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF

%600335 SUCCINIC ACIDEMIA

#600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE
        Gene map locus 2q31

 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA

%600332 RIPPLING MUSCLE DISEASE 1; RMD1
        Gene map locus 1q41

 600331 PARC SYNDROME

 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME

 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY

 600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN

%600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7
        Gene map locus 2q31

#600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5
        Gene map locus 6q25

%600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4
        Gene map locus 11q13

%600318 DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3
        Gene map locus 15q26

#600316 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3
        Gene map locus 17p11.2

#600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
        ATRIOVENTRICULAR CANAL DEFECT; AVCD
        Gene map locus 1p31-p21, 6q21-q23.2

 600302 FRYNS MACROCEPHALY

#600274 FRONTOTEMPORAL DEMENTIA; FTD
        PICK COMPLEX, INCLUDED
        Gene map locus 17q21.1, 14q24.3

#600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS
        Gene map locus 16p13.3

 600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE

 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS

#600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
        Gene map locus 7q31.3, 6q23-q24

#600257 BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME

%600256 HYDROCEPHALUS, AUTOSOMAL DOMINANT

 600252 LOWRY-MACLEAN SYNDROME

 600251 OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS

#600224 SPINOCEREBELLAR ATAXIA 5; SCA5
        Gene map locus 11q13

%600223 SPINOCEREBELLAR ATAXIA 4; SCA4
        Gene map locus 16q22.1

%600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3
        Gene map locus 19p

#600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
        Gene map locus 22q11.2

#600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
        Gene map locus 1p33-p32.2

#600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2
        Gene map locus 6p22.2

#600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
        Gene map locus 9p21

%600193 WAARDENBURG SYNDROME, TYPE IIB; WS2B
        Gene map locus 1p21-p13.3

 600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES

%600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
        Gene map locus 12q23-q24

 600171 GONADAL AGENESIS

 600166 HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA

%600165 NANOPHTHALMOS 1; NNO1
        Gene map locus 11p

 600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES

%600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5
        Gene map locus 21q22

#600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
        Gene map locus 13q22

#600149 GLYCEROL KINASE, TESTICULAR, TYPE B

 600148 GLYCEROL KINASE, TESTICULAR, TYPE A

 600146 SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B

#600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE
        CAUDAL DYSGENESIS SYNDROME, INCLUDED
        Gene map locus 1p13

#600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
        Gene map locus 8pter-p22

%600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL

 600139 SUBEPENDYMOMA

#600138 RETINITIS PIGMENTOSA 11; RP11
        Gene map locus 19q13.4

#600132 RETINITIS PIGMENTOSA 14; RP14
        Gene map locus 6p21.3

%600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1
        Gene map locus 8q24

 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS

 600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE

#600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
        Gene map locus 2q31

#600118 WARBURG MICRO SYNDROME; WARBM
        Gene map locus 2q21.3

 600117 DYSPHASIA, FAMILIAL DEVELOPMENTAL

#600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
        Gene map locus 6q25.2-q27

#600110 STARGARDT DISEASE 3; STGD3
        MACULAR DYSTROPHY, AUTOSOMAL DOMINANT, CHROMOSOME 6-LINKED, INCLUDED; ADMD, INCLUDED
        Gene map locus 6q14

#600105 RETINITIS PIGMENTOSA 12; RP12
        RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM, INCLUDED
        Gene map locus 1q31-q32.1

#600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2
        Gene map locus 1p34, 1p35.1

 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME

%600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
        Gene map locus 10q24

 600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES

 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME

 600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS
        Gene map locus Chr.6

 600084 MACROCYTOSIS, FAMILIAL

 600082 PROSTATIC HYPERPLASIA, BENIGN; BPH

#600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE
        Gene map locus 11p15.2

 600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC

#600072 FATAL FAMILIAL INSOMNIA; FFI
        Gene map locus 20pter-p12

#600060 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2
        Gene map locus 11q13.5

#600059 RETINITIS PIGMENTOSA 13; RP13
        Gene map locus 17p13.3

%600057 EXSTROPHY OF BLADDER
        BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED

%600048 BREAST CANCER, 11-22 TRANSLOCATION ASSOCIATED
        Gene map locus 11q23

#600002 EIKEN SKELETAL DYSPLASIA
        Gene map locus 3p22-p21.1

 600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE

 600000 SPONDYLOCAMPTODACTYLY

#598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM

#580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED
        Gene map locus 22q13

#560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA

#557000 PEARSON MARROW-PANCREAS SYNDROME

#556500 PARKINSON DISEASE, MITOCHONDRIAL

#553000 ONCOCYTOMA

#551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA

#551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL

#551000 MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE; LIMM

#550500 MYOGLOBINURIA, RECURRENT

#545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

#540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS

#535000 LEBER OPTIC ATROPHY

#530000 KEARNS-SAYRE SYNDROME; KSS

#520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY

#520000 DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED

#515000 CHLORAMPHENICOL TOXICITY
        CHLORAMPHENICOL RESISTANCE, INCLUDED

#502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL

#502000 AGING

#500007 CYCLIC VOMITING SYNDROME; CVS
        CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED

#500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL

#500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME

#500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

#500002 MITOCHONDRIAL MYOPATHY WITH DIABETES

#500001 LEBER OPTIC ATROPHY AND DYSTONIA

#500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID

 489000 UBIQUITIN-ACTIVATING ENZYME, Y-LINKED

%475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY
        Gene map locus Yq12

 425500 HAIRY EARS, Y-LINKED
        Gene map locus Yq

%424500 GONADOBLASTOMA; GBY

#415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
        AZOOSPERMIA FACTOR REGIONS, INCLUDED
        Gene map locus Yq11.2

%400043 DEAFNESS, Y-LINKED 1; DFNY1
        Gene map locus Chr.Y

#400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED
        SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED
        Gene map locus 3q21

%400021 HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL

%400004 RETINITIS PIGMENTOSA, Y-LINKED
        Gene map locus Chr.Y

 315000 ZONULAR CATARACT AND NYSTAGMUS

 314960 XP40

 314940 XP37

 314920 XP24

%314900 XM SYSTEM
        Gene map locus Xq28

 314800 XH ANTIGEN

%314705 XG REGULATOR; XGR
        Gene map locus Xp22.32

 314600 WILDERVANCK SYNDROME

%314580 WIEACKER SYNDROME
        Gene map locus Xq13-q21

 314570 WIDOW'S PEAK SYNDROME

 314560 VON WILLEBRAND DISEASE, X-LINKED FORM

 314550 VESICOURETERAL REFLUX, X-LINKED; VURX

%314500 VAN DEN BOSCH SYNDROME

%314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1
        Gene map locus Xq28

#314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED
        Gene map locus Xp22.31

%314380 UNIQUE GREEN PHENOMENON

 314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET

 314350 TYROSINE AMINOTRANSFERASE, REGULATOR OF

 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY

%314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR
        Gene map locus Xq28

#314250 DYSTONIA 3, TORSION, X-LINKED; DYT3
        Gene map locus Xq13

 314240 TOOTH SIZE

 314100 THUMBS, CONGENITAL CLASPED

#314050 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS

 314000 THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE

#313900 THROMBOCYTOPENIA 1; THC1
        THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED
        Gene map locus Xp11.23-p11.22

%313850 THORACOABDOMINAL SYNDROME; THAS
        MIDLINE DEFECTS, X-LINKED, INCLUDED
        Gene map locus Xq25-q26.1

 313550 TEETH, BURIED

 313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1

 313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS

 313480 TaqI POLYMORPHISM; TAQ1

%313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED

#313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
        Gene map locus Xp22.2-p22.1

%313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2
        Gene map locus Xq26

#313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
        Gene map locus Xq11-q12

%313000 SPATIAL VISUALIZATION, APTITUDE FOR
        TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED
        Gene map locus Xp22.33

#312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2
        Gene map locus Xq22

 312910 SPASTIC PARAPARESIS AND DEAFNESS

#312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
        Gene map locus Xq26

#312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX
        Gene map locus Xq13

 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION

 312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME

 312830 SCARF SYNDROME

 312780 RUSSELL-SILVER SYNDROME, X-LINKED

#312750 RETT SYNDROME; RTT
        RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED
        Gene map locus Xq28, Xp22

%312612 RETINITIS PIGMENTOSA 6; RP6
        Gene map locus Xp21.3-p21.2

 312550 RETINAL DYSPLASIA, PRIMARY; PRD

 312530 RETINAL DETACHMENT

%312500 RETICULOENDOTHELIOSIS, X-LINKED

#312300 REIFENSTEIN SYNDROME

 312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY

 312200 RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER

 312190 RADIAL APLASIA, X-LINKED

#312170 PYRUVATE DECARBOXYLASE DEFICIENCY
        LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED
        Gene map locus Xp22.2-p22.1

%312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED

 312100 PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I

#312080 PELIZAEUS-MERZBACHER DISEASE; PMD
        Gene map locus Xq22

#312060 PROPERDIN DEFICIENCY, X-LINKED
        PROPERDIN DEFICIENCY, TYPE II, INCLUDED
        Gene map locus Xp11.4-p11.23

 312030 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN, X-LINKED; B1G2; SP1X

#312000 PANHYPOPITUITARISM, X-LINKED; PHPX
        Gene map locus Xq27.2-q27.3, Xq26.3

%311900 TARP SYNDROME; TARPS
        Gene map locus Xp11.23-q13.3

 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES

%311510 PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION
        Gene map locus Xq28

 311450 PALLISTER W SYNDROME

 311400 PAINE SYNDROME
        SEEMANOVA SYNDROME I, INCLUDED

#311360 PREMATURE OVARIAN FAILURE 1; POF1
        Gene map locus Xq26-q28

 311350 OUABAIN RESISTANCE; OUBR

#311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
        Gene map locus Xq28

 311280 OSTEOPATHIA STRIATA WITH PIGMENTARY DERMOPATHY INCLUDING WHITE FORELOCK

#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
        VALPROATE SENSITIVITY, INCLUDED
        Gene map locus Xp21.1

#311200 OROFACIODIGITAL SYNDROME I; OFD1
        Gene map locus Xp22.3-p22.2

#311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
        Gene map locus Xq22

 311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME

#311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
        Gene map locus Xq22-q24

%311050 OPTIC ATROPHY 2; OPA2
        Gene map locus Xp11.4-p11.21

%311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM

 310980 OMPHALOCELE

 310900 OCCIPITAL HAIR, WHITE LOCK OF

 310800 NYSTAGMUS, MYOCLONIC

#310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1
        Gene map locus Xq26.2, Xq26-q27

 310650 NUCLEAR RIBONUCLEIC ACID; nRNA

#310600 NORRIE DISEASE; ND
        Gene map locus Xp11.4

#310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
        NYCTALOPIA, INCLUDED
        Gene map locus Xp11.4

%310490 COWCHOCK SYNDROME
        Gene map locus Xq24-q26.1

 310470 NEUROPATHY, HEREDITARY SENSORY, X-LINKED

#310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
        Gene map locus Xp11.22

 310465 N SYNDROME; NSX
        Gene map locus Xp22.3-p21.1

%310460 MYOPIA 1; MYP1
        BORNHOLM EYE DISEASE, INCLUDED; BED, INCLUDED
        Gene map locus Xq28

%310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
        Gene map locus Xq28

#310400 MYOTUBULAR MYOPATHY 1; MTM1
        Gene map locus Xq28

 310370 MYOCLONIC EPILEPSY, PROGRESSIVE

 310350 MYELOLYMPHATIC INSUFFICIENCY

#310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
        Gene map locus Xq28

#310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
        Gene map locus 12q21, Xp21.2

 310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL

 310000 MUSCULAR DYSTROPHY, MABRY TYPE

 309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE

 309930 MUSCULAR DYSTROPHY, CARDIAC TYPE

 309840 MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS

#309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7
        Gene map locus Xp22

%309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
        Gene map locus Xq27-q28

 309700 MOVED TO 310600

 309645 METAPHYSEAL ANADYSPLASIA

 309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA

%309630 METACARPAL 4-5 FUSION; MF4

%309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD
        Gene map locus Xq28

%309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS
        Gene map locus Xp11-q21

%309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS
        Gene map locus Xq13-q22

%309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS
        Gene map locus Xp21.1-q22

#309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
        Gene map locus Xp22.1

#309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
        Gene map locus Xq13

 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS

%309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
        Gene map locus Xq26

#309549 MENTAL RETARDATION, X-LINKED 9; MRX9
        Gene map locus Xp11.23

%309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
        Gene map locus Xp11

%309541 MENTAL RETARDATION, X-LINKED 3; MRX3
        Gene map locus Xq28

%309530 MENTAL RETARDATION, X-LINKED 1; MRX1
        Gene map locus Xp11.3-q21.1

#309520 LUJAN-FRYNS SYNDROME

#309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS
        Gene map locus Xp22.13

#309500 RENPENNING SYNDROME 1; RENS1
        Gene map locus Xp11.23

 309480 MENTAL RETARDATION ASSOCIATED WITH PSORIASIS

#309400 MENKES DISEASE
        Gene map locus Xq12-q13

#309350 MELNICK-NEEDLES SYNDROME; MNS
        Gene map locus Xq28

%309300 MEGALOCORNEA; MGC1
        Gene map locus Xq21.3-q22

%309200 MAJOR AFFECTIVE DISORDER 2; MAFD2
        Gene map locus Xq28

%309150 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD

 309120 MALE INFERTILITY FROM DEFECT IN MEIOSIS

%309100 MACULAR DYSTROPHY, X-LINKED

 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS
        Gene map locus Xp21.2-q21.1

#309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL
        Gene map locus Xq26.1

#308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
        Gene map locus Xp11.22

 308960 LEUKEMIA, ACUTE, ?X-LINKED

 308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT

#308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY
        Gene map locus Xq22.3

#308930 LEIGH SYNDROME, X-LINKED
        Gene map locus Xp22.2-p22.1

%308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO
        Gene map locus Xp11

 308850 LARYNGEAL ABDUCTOR PARALYSIS

 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY

#308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD
        Gene map locus Xp22.1

 308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA

 308600 JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY

 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG

#308370 INFERTILE MALE SYNDROME

#308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
        INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY, INCLUDED
        Gene map locus Xp22, Xp22.13

#308300 INCONTINENTIA PIGMENTI; IP
        Gene map locus Xq28

 308290 IMPRINTING GENE RELATED TO RETINOBLASTOMA

 308280 IMPACTED TEETH, MULTIPLE

%308250 IMMUNOGLOBULIN M, LEVEL OF

#308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
        Gene map locus Xq25

#308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
        Gene map locus Xq26

 308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN

%308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME

 308200 ICHTHYOSIS AND MALE HYPOGONADISM
        RUD SYNDROME, INCLUDED

#308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
        Gene map locus Xq28

 307830 HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION

#307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
        Gene map locus Xp22.2-p22.1

%307700 HYPOPARATHYROIDISM, X-LINKED; HYPX
        Gene map locus Xq26-q27

 307500 HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES

 307300 HYPOGONADISM, MALE

#307200 HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED
        Gene map locus Xq21.3-q22

%307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2
        Gene map locus Xq24-q27.1

#307030 HYPERGLYCEROLEMIA
        Gene map locus Xp21.3-p21.2

 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS

#307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
        HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDED
        Gene map locus Xq28

 306995 HOMOSEXUALITY 1; HMS1
        Gene map locus Xq28

 306990 HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE

 306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY

 306970 H-Y REGULATOR; HYR
        Gene map locus Xp22.3

 306960 HHHH SYNDROME

#306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1
        CONGENITAL HEART DEFECTS, X-LINKED, INCLUDED
        Gene map locus Xq26.2

 306950 HERNIA, ANTERIOR DIAPHRAGMATIC

 306930 HEMOPOIETIC PROLIFERATION

 306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY

 306500 GYNECOMASTIA, FAMILIAL

#306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
        CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED
        Gene map locus Xp21.1

 306300 GRANULOMAS, CONGENITAL CEREBRAL

 305920 GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE

 305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED

 305700 SERTOLI CELL-ONLY SYNDROME

 305690 GENITOURINARY TRACT ANOMALIES

 305645 FRONTONASAL DYSPLASIA

#305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD

#305600 FOCAL DERMAL HYPOPLASIA; FDH
        Gene map locus Xp11.23

 305550 FINGERPRINT BODY MYOPATHY

#305450 OPITZ-KAVEGGIA SYNDROME; OKS
        Gene map locus Xq12-q21.31

%305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3
        HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, SWISS TYPE, INCLUDED
        Gene map locus Xp22.2

#305400 FACIOGENITAL DYSPLASIA
        FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED
        Gene map locus Xp11.21

#305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2
        Gene map locus Xp11.4

 305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2

 305300 ENDOCARDIAL FIBROELASTOSIS

%305200 EHLERS-DANLOS SYNDROME, TYPE V

#305100 ECTODERMAL DYSPLASIA 1; ED1
        Gene map locus Xq12-q13.1

#305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC
        Gene map locus Xq28

 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED

 304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE

#304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
        Gene map locus Xq28

#304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX
        ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED
        Gene map locus Xp11.23-q13.3

%304730 DERMOIDS OF CORNEA; CND
        Gene map locus Xq24-qter

#304700 MOHR-TRANEBJAERG SYNDROME; MTS
        Gene map locus Xq22

%304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED

%304500 DEAFNESS, X-LINKED 1; DFNX1
        Gene map locus Xq22

#304400 DEAFNESS, X-LINKED 2; DFNX2
        PERILYMPHATIC GUSHER DURING STAPES SURGERY, INCLUDED
        Gene map locus Xq21.1

 304350 DEAFNESS-HYPOGONADISM SYNDROME; DHS

%304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
        Gene map locus Xq25-q27

 304300 CYANIDE, INABILITY TO SMELL

 304200 CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION

#304150 CUTIS LAXA, X-LINKED
        Gene map locus Xq12-q13

#304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
        Gene map locus Xq28

#304110 CRANIOFRONTONASAL SYNDROME; CFNS
        Gene map locus Xq12

#304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
        Gene map locus Xq28

%304050 AICARDI SYNDROME; AIC
        Gene map locus Xp22

 304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN

#304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1
        CONE DYSTROPHY, X-LINKED, 1; COD1
        Gene map locus Xp21.1

 304000 COLORBLINDNESS, PARTIAL TRITANOMALY

%303700 COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM
        RED AND GREEN PIGMENT GENES, CONTROLLER OF, INCLUDED
        Gene map locus Xq28, Xq28

 303650 COLONIC ATRESIA

#303600 COFFIN-LOWRY SYNDROME; CLS
        Gene map locus Xp22.2-p22.1

#303400 CLEFT PALATE, X-LINKED; CPX
        CLEFT PALATE WITH ANKYLOGLOSSIA, INCLUDED
        Gene map locus Xq12-q21

#303350 MASA SYNDROME
        Gene map locus Xq28

 303110 CHOROIDEREMIA WITH DEAFNESS AND OBESITY

#303100 CHOROIDEREMIA; CHM
        CHOROIDAL SCLEROSIS, INCLUDED
        Gene map locus Xq21.2

#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
        Gene map locus Xp11.23-p11.22

#302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
        Gene map locus Xp22.3

 302905 CHARGE-LIKE SYNDROME, X-LINKED

 302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED

 302803 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA

%302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3
        Gene map locus Xq26

%302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2
        Gene map locus Xp22.2

#302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
        Gene map locus Xq13.1

 302700 CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE

 302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2

%302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1
        Gene map locus Xp11.21-q21.3

 302400 CENTRAL INCISORS, ABSENCE OF

 302380 CATEL-MANZKE SYNDROME

#302350 NANCE-HORAN SYNDROME; NHS
        Gene map locus Xp22.13

 302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3

#302060 BARTH SYNDROME; BTHS
        Gene map locus Xq28

#302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B
        Gene map locus Xp21.2

 302030 CALVARIAL HYPEROSTOSIS

%302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE
        Gene map locus Xq27.3-qter

 301950 BRANCHIAL ARCH SYNDROME, X-LINKED

 301940 BRACHYDACTYLY, MONONEN TYPE

#301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS
        Gene map locus Xq26.3

 301850 TUBULIN, BETA

%301845 BAZEX SYNDROME; BZX
        Gene map locus Xq24-q27

 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4

#301835 ARTS SYNDROME; ARTS
        Gene map locus Xq22-q24, Xq21.2-q24

#301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2
        Gene map locus Xp11.23

 301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY

 301800 ANUS, IMPERFORATE

 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3

 301700 ANOSMIA

%301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4
        Gene map locus Xq27-q28

#301500 FABRY DISEASE
        FABRY DISEASE, CARDIAC VARIANT, INCLUDED
        Gene map locus Xq22

 301410 NEURAL TUBE DEFECTS, X-LINKED
        SPINA BIFIDA, X-LINKED, INCLUDED

#301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
        Gene map locus Xq13.1-q13.3

%301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR
        Gene map locus Xp22-p21

%301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
        Gene map locus Xq22-q28

#301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
        AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH, INCLUDED
        Gene map locus Xp22.3-p22.1

 301090 TETRA-AMELIA, X-LINKED

#301050 ALPORT SYNDROME, X-LINKED; ATS
        ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS, INCLUDED; ASLHN, INCLUDED; ASLN, INCLUDED
        Gene map locus Xq22.3

#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX
        Gene map locus Xq13

#301000 WISKOTT-ALDRICH SYNDROME; WAS
        Gene map locus Xp11.23-p11.22

%300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
        Gene map locus Chr.X

#300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
        Gene map locus Xq27.2

#300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE
        Gene map locus Xq27.2

#300716 MENTAL RETARDATION, X-LINKED 95; MRX95
        Gene map locus Xq13.1-q13.2

%300712 CRANIOFACIOSKELETAL SYNDROME
        Gene map locus Xq26-q27

%300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4
        Gene map locus Xq23

%300710 ALOPECIA, ANDROGENETIC, 2; AGA2
        Gene map locus Xq11-q12

%300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9
        Gene map locus MRXS9

#300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR
        Gene map locus Xq28

#300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
        Gene map locus Xp11.2

#300705 MENTAL RETARDATION, X-LINKED 17; MRX17
        Gene map locus Xp11.2

%300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2
        Gene map locus Xp11.22

%300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5
        Gene map locus Xq25-q27.1

%300700 ALBINISM-DEAFNESS SYNDROME; ADFN
        Gene map locus Xq26.3-q27.1

#300699 MENTAL RETARDATION, X-LINKED 94; MRX94
        Gene map locus Xq25-q26

#300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
        Gene map locus Xq27.2

#300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
        Gene map locus Xq27.2

#300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14
        Gene map locus Xq25-q26

#300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
        Gene map locus Xq28

#300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

#300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
        GOUT, PRPS-RELATED, INCLUDED
        Gene map locus Xq22-q24

%300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA

#300659 MENTAL RETARDATION, X-LINKED 93; MRX93
        Gene map locus Xq13

#300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
        Gene map locus Xq13

%300652 ANGIOMA SERPIGINOSUM, X-LINKED
        Gene map locus Xp11.3-q12

 300650 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD
        Gene map locus Xp22.3

%300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2
        Gene map locus Xp21.2-q26.3

#300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

#300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2

#300639 MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA
        Gene map locus Xq23

#300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1
        Gene map locus Xq28

#300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2
        Gene map locus Xq25

#300633 HYPOSPADIAS, X-LINKED
        Gene map locus Xq28, Xq11-q12

#300630 MENTAL RETARDATION, X-LINKED 59; MRX59
        Gene map locus Xp22

#300624 FRAGILE X MENTAL RETARDATION SYNDROME
        Gene map locus Xq27.3

#300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS
        Gene map locus Xq27.3

#300622 TN SYNDROME
        Gene map locus Xq23

%300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION

#300615 BRUNNER SYNDROME

%300614 DEAFNESS, X-LINKED 5; DFNX5
        Gene map locus Xq23-q27.3

%300613 MYOPIA 13

%300612 BROOKS-WISNIEWSKI-BROWN SYNDROME

#300607 HYPEREKPLEXIA AND EPILEPSY
        Gene map locus Xq22.1

#300606 HYPODONTIA, X-LINKED
        Gene map locus Xq12-q13.1

%300605 RETINITIS PIGMENTOSA 34
        Gene map locus Xq28

#300604 PREMATURE OVARIAN FAILURE 2B; POF2B
        Gene map locus Xq21

 300602 CLARK-BARAITSER SYNDROME

#300600 ALAND ISLAND EYE DISEASE; AIED
        Gene map locus Xp11.23

%300591 STATURE QUANTITATIVE TRAIT LOCUS 6
        Gene map locus Xq24-q25

#300590 CORNELIA DE LANGE SYNDROME 2; CDLS2
        Gene map locus Xp11.22-p11.21

%300589 NYSTAGMUS 5, INFANTILE PERIODIC ALTERNATING; NYS5
        Gene map locus Chr.X

#300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
        Gene map locus Xq28

#300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS
        Gene map locus Xpter-p22.32

%300581 FG SYNDROME 5; FGS5
        Gene map locus Xq22.3

%300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED; CFTD2
        Gene map locus Xq13.1-q22.1

#300578 CHROMOSOME Xp11.3 DELETION SYNDROME
        Gene map locus Xp11.3

#300577 MENTAL RETARDATION, X-LINKED 91; MRX91
        Gene map locus Xq13.3

 300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE

#300559 MUSCLE GLYCOGENOSIS, X-LINKED
        Gene map locus Xq13

#300558 MENTAL RETARDATION, X-LINKED 30; MRX30
        Gene map locus Xq21.3-q24

%300557 PARKINSON DISEASE 12
        Gene map locus Xq21-q25

#300555 DENT DISEASE 2

#300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
        Gene map locus Xp11.22

%300551 MENTAL RETARDATION, X-LINKED 78; MRX78
        Gene map locus Xp11.4-p11.23

#300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD
        Gene map locus Xq28

#300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
        Gene map locus Xq28

%300536 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4
        Gene map locus Xq27

#300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED
        Gene map locus Xp11.22-p11.21

#300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
        Gene map locus Xq13.2

%300519 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME
        Gene map locus Xq11-q21

%300518 MENTAL RETARDATION, X-LINKED 82; MRX82
        Gene map locus Xq24-q25

#300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
        Gene map locus Xp22.31

#300511 PREMATURE OVARIAN FAILURE 2A; POF2A
        Gene map locus Xq22

#300510 OVARIAN DYSGENESIS 2; ODG2
        PREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED
        Gene map locus Xp11.2

%300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9
        Gene map locus Xq27.3

%300505 MENTAL RETARDATION, X-LINKED 84; MRX84
        Gene map locus Xp11.3-q22.3

%300504 MENTAL RETARDATION, X-LINKED 52; MRX52
        Gene map locus Xp11.21-q22.3

#300498 MENTAL RETARDATION, X-LINKED 45; MRX45
        Gene map locus Xp22.1-p11

#300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
        Gene map locus Xp22.33

#300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3
        Gene map locus Xq28

#300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO,  2
        MENTAL RETARDATION, X-LINKED, INCLUDED
        Gene map locus Xp22.33

#300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
        Gene map locus Xq13

#300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
        Gene map locus Xp11.4-p11.2

%300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3
        Gene map locus Xq13.1-q21

%300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1
        Gene map locus Xp21.3

#300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
        Gene map locus Xq12

%300484 OROFACIODIGITAL SYNDROME VIII; OFD8

#300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
        Gene map locus Xp11.23, Xp11.4-q13.1

#300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME

#300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
        Gene map locus Xq13.1-q13.3

%300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3
        Gene map locus Xq23-q26

#300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS
        RETINITIS PIGMENTOSA, X-LINKED, WITH DEAFNESS AND SINORESPIRATORY INFECTIONS, INCLUDED
        Gene map locus Xp21.1

%300454 MENTAL RETARDATION, X-LINKED 77; MRX77
        Gene map locus Xq12-q21.3

#300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS
        Gene map locus Xq13

#300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
        Gene map locus Xp11.2

#300436 MENTAL RETARDATION, X-LINKED 46; MRX46
        Gene map locus Xq26

#300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
        Gene map locus Xp11.2

%300433 MENTAL RETARDATION, X-LINKED 81; MRX81
        Gene map locus Xp11.2-q12

#300432 EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY
        Gene map locus Xp22.13

 300431 ATKIN-FLAITZ SYNDROME

%300428 MENTAL RETARDATION, X-LINKED 2; MRX2
        Gene map locus Xp22.3

#300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1
        AUTSX1
        Gene map locus Xq13

%300424 RETINITIS PIGMENTOSA 23; RP23
        Gene map locus Xp22

#300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE
        Gene map locus Xp11.4

%300422 FG SYNDROME 4; FGS4
        Gene map locus Xp11.4-p11.3

%300421 WITTWER SYNDROME

#300419 MENTAL RETARDATION, X-LINKED 54; MRX54
        Gene map locus Xp22.13

%300406 FG SYNDROME 3; FGS3
        Gene map locus Xp22.3

 300404 BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA
        Gene map locus Chr.X

#300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
        Gene map locus Xq13

#300389 RETINITIS PIGMENTOSA 3; RP3
        Gene map locus Xp21.1

#300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP
        Gene map locus Xq28

#300387 MENTAL RETARDATION, X-LINKED 63; MRX63
        Gene map locus Xq22.3

#300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
        Gene map locus Xp21.2

%300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS
        Gene map locus Chr.X

%300372 MENTAL RETARDATION, X-LINKED 42; MRX42
        Gene map locus Xq26

#300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
        MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED
        Gene map locus Xp11.23

%300360 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
        Gene map locus Xq24

%300355 MENTAL RETARDATION, X-LINKED 73; MRX73

#300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR
        Gene map locus Xq23

#300352 CREATINE DEFICIENCY SYNDROME, X-LINKED
        Gene map locus Xq28

%300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1
        GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED; GRDX2, INCLUDED
        Gene map locus Xp11

%300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1
        Gene map locus Chr.X

%300324 MENTAL RETARDATION, X-LINKED 53; MRX53
        Gene map locus Xq22.2-q26

#300323 GOUT, HPRT-RELATED
        Gene map locus Xq26-q27.2

#300322 LESCH-NYHAN SYNDROME; LNS
        HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED
        Gene map locus Xq26-q27.2

%300321 FG SYNDROME 2; FGS2
        Gene map locus Xq28

%300310 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2
        Gene map locus Xp22

#300306 OBESITY, SUSCEPTIBILITY TO, X-LINKED
        Gene map locus Xq23-q24

#300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID
        Gene map locus Xq28

#300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN
        Gene map locus Xp11.23-p11.22

#300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
        ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED
        Gene map locus Xq28

 300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES
        Gene map locus Chr.X

 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME

 300274 ANDROGEN INSENSITIVITY SYNDROME DUE TO COACTIVATOR DEFICIENCY

%300273 GOITER, MULTINODULAR 2; MNG2
        Gene map locus Xp22

%300271 MENTAL RETARDATION, X-LINKED 72; MRX72
        Gene map locus Xq28

 300270 ADRENOMYODYSTROPHY

%300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16
        Gene map locus Xq11.2

#300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
        Gene map locus Xp11.2

%300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME
        Gene map locus Xq13.2

%300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME
        Gene map locus Xq28

#300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL
        Gene map locus Xq28, Xq28

 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED

 300258 ROIFMAN SYNDROME
        Gene map locus Chr.X

#300257 DANON DISEASE
        Gene map locus Xq24

%300250 ADRENAL UNRESPONSIVENESS TO ACTH

%300245 PTOSIS, HEREDITARY CONGENITAL 2
        Gene map locus Xq24-q27.1

%300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
        Gene map locus Xq27.3-q28

#300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
        Gene map locus Xq26.3, Xq24-q27.3

#300240 HOYERAAL-HREIDARSSON SYNDROME; HHS
        Gene map locus Xq28

%300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11
        Gene map locus Xq26-q27

 300233 RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE

 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION

%300228 TESTICULAR GERM CELL TUMOR 1
        Gene map locus Xq27

%300221 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL
        Gene map locus Xpter-p22.32

#300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10
        Gene map locus Xp11.2, Xp11.2

#300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT

%300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7
        Gene map locus Xp11.3-q22

 300216 COATS DISEASE

#300215 LISSENCEPHALY, X-LINKED, 2; LISX2
        HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED
        Gene map locus Xp22.13

%300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX
        Gene map locus Xp22.3

#300210 MENTAL RETARDATION, X-LINKED 58; MRX58
        Gene map locus Xq11

#300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
        Gene map locus Xp22, Xp22.3-p22.2

#300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC
        ADRENAL HYPOPLASIA, CONGENITAL, WITH PRECOCIOUS PUBERTY, INCLUDED
        Gene map locus Xp21.3-p21.2

%300195 ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS CHROMOSOMAL REGION GENE 1; AMMECR1
        Gene map locus Xq22.3

#300194 AMME COMPLEX
        Gene map locus Xq22.3

 300184 HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES

#300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX
        Gene map locus Xq28

%300179 X INACTIVATION, FAMILIAL SKEWED, 2
        Gene map locus Xq25-q26

#300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2
        Gene map locus Xp11.4

%300158 ARTHROGRYPOSIS, X-LINKED, TYPE V; AMCX5

%300155 RETINITIS PIGMENTOSA 24; RP24
        Gene map locus Xq26-q27

%300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO
        Gene map locus Xp22.13-p21.1

%300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1
        Gene map locus Xq27-q28

#300143 MENTAL RETARDATION, X-LINKED 21; MRX21
        Gene map locus Xp22.1-p21.3

%300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO
        Gene map locus Xp11

 300129 HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF

%300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
        Gene map locus Xq

#300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM
        MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED; MRGH, INCLUDED
        Gene map locus Xq26.3

%300115 MENTAL RETARDATION, X-LINKED 50; MRX50
        Gene map locus Xp11.3-p11.21

%300114 MENTAL RETARDATION, X-LINKED 49; MRX49
        Gene map locus Xp22.3

 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED

#300100 ADRENOLEUKODYSTROPHY; ALD
        Gene map locus Xq28

#300088 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR
        Gene map locus Xq22

#300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1
        Gene map locus Xq13.2

%300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2
        Gene map locus Xq27

%300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1
        Gene map locus Xq

%300077 MENTAL RETARDATION, X-LINKED 29; MRX29
        Gene map locus Xp22.3-p21.3

%300076 IMMUNONEUROLOGIC DISORDER, X-LINKED
        Gene map locus Xq26-qter

 300073 FETAL AKINESIA SYNDROME, X-LINKED

#300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A
        Gene map locus Xp11.23

#300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A
        Gene map locus Xq28

#300068 ANDROGEN INSENSITIVITY SYNDROME; AIS
        Gene map locus Xq11-q12

#300067 LISSENCEPHALY, X-LINKED, 1; LISX1
        SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED
        Gene map locus Xq22.3-q23

%300066 DEAFNESS, X-LINKED 4; DFNX4
        Gene map locus Xp22

 300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM

 300062 MENTAL RETARDATION, X-LINKED 14; MRX14
        Gene map locus Xp11.3-q13.3

#300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13
        MENTAL RETARDATION, X-LINKED 79; MRX79
        Gene map locus Xq28

 300054 BODY LENGTH, MOUSE, HUMAN HOMOLOG

#300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT
        HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED
        Gene map locus Xq28

#300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED
        Gene map locus Xq28

%300047 MENTAL RETARDATION, X-LINKED 20; MRX20
        Gene map locus Xp11-q21

%300046 MENTAL RETARDATION, X-LINKED 23; MRX23
        Gene map locus Xq23-q24

 300042 ALOPECIA, CONGENITAL

#300031 FRAGILE SITE F, X-LINKED; FRAXF

%300030 DEAFNESS, X-LINKED 3; DFNX3
        Gene map locus Xp21.2

#300029 RETINITIS PIGMENTOSA 15; RP15
        Gene map locus Xp21.1

#300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS
        Gene map locus Xp21.3-p21.2

#300009 DENT DISEASE 1
        Gene map locus Xq26.1, Xp11.22

#300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
        Gene map locus Xp22.13

%300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY

#300000 OPITZ SYNDROME
        Gene map locus Xp22

 280000 ZUNICH NEUROECTODERMAL SYNDROME

 279000 YOUNG SYNDROME

 278900 XYLOSIDASE DEFICIENCY

 278850 XX MALE SYNDROME

 278810 XERODERMA PIGMENTOSUM IX

#278800 DE SANCTIS-CACCHIONE SYNDROME
        Gene map locus 10q11

#278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
        XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED
        Gene map locus 13q33

#278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
        Gene map locus 16p13.3-p13.13

#278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
        Gene map locus 6p21.1-p12

#278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
        Gene map locus 11p12-p11

#278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
        TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED
        Gene map locus 19q13.2-q13.3

#278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
        Gene map locus 9q22.3

#278400 ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA
        Gene map locus 9p23

#278300 XANTHINURIA, TYPE I
        Gene map locus 2p23-p22

#278250 WRINKLY SKIN SYNDROME; WSS
        Gene map locus 12q24.3

 278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS

#278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE
        Gene map locus 13q14.12-q14.2

 278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS

 277990 WOLFF MENTAL RETARDATION SYNDROME

 277970 WISKOTT-ALDRICH SYNDROME

#277950 WINCHESTER SYNDROME
        Gene map locus 16q13

#277900 WILSON DISEASE
        Gene map locus 13q14.3-q21.1

 277740 WHITE FORELOCK WITH MALFORMATIONS

%277730 WERNICKE-KORSAKOFF SYNDROME
        Gene map locus 3p14.3

 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM

#277700 WERNER SYNDROME; WRN
        Gene map locus 8p12-p11.2

#277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS
        Gene map locus 6p21.3

#277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
        Gene map locus 19p13.3-p13.2

#277590 WEAVER SYNDROME
        WEAVER-LIKE SYNDROME, INCLUDED
        Gene map locus 5q35

#277580 WAARDENBURG-SHAH SYNDROME
        Gene map locus 20q13.2-q13.3, 13q22, 22q13

#277480 VON WILLEBRAND DISEASE, RECESSIVE FORM

%277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2

 277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION

#277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED
        Gene map locus 8q13.1-q13.3

#277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
        CHONDRODYSPLASIA PUNCTATA WITH COAGULATION FACTOR DEFICIENCY, INCLUDED
        Gene map locus 2p12

#277440 VITAMIN D-DEPENDENT RICKETS, TYPE II
        VITAMIN D-DEPENDENT RICKETS, TYPE II, WITHOUT ALOPECIA, INCLUDED
        Gene map locus 12q12-q14

#277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
        HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED
        Gene map locus 2q23.2

#277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
        Gene map locus 1p34.1

%277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE

%277350 VITAMIN A METABOLIC DEFECT

%277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA

#277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1
        Gene map locus 19q13

 277200 RIGHT VENTRICULAR HYPOPLASIA, ISOLATED

#277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
        Gene map locus 7q31.2

 277175 VASCULAR HYALINOSIS

%277170 VARADI-PAPP SYNDROME

%277150 VAN BOGAERT-HOZAY SYNDROME

%277100 VALINEMIA

#277000 ROKITANSKY-KUSTER-HAUSER SYNDROME
        Gene map locus 1p35

#276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS
        VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED
        Gene map locus 10q23.31

%276905 USHER SYNDROME, TYPE IIB; USH2B
        Gene map locus 3p24.2-p23

#276904 USHER SYNDROME, TYPE IC; USH1C
        Gene map locus 11p15.1

#276902 USHER SYNDROME, TYPE III; USH3
        Gene map locus 3q21-q25

#276901 USHER SYNDROME, TYPE IIA; USH2A
        Gene map locus 1q41

#276900 USHER SYNDROME, TYPE I
        USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED
        Gene map locus 11q13.5

 276880 UROCANASE DEFICIENCY

 276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS

 276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION

#276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
        Gene map locus 3p25

 276800 TYROSINOSIS

#276710 TYROSINEMIA, TYPE III
        Gene map locus 12q24-qter

 276410 TWINNING, MONOZYGOTIC

%276400 TWINNING, DIZYGOTIC
        OVARIAN RESPONSE TO FSH STIMULATION, INCLUDED
        Gene map locus 2p21-p16

#276300 MISMATCH REPAIR CANCER SYNDROME
        Gene map locus 7p22, 3p21.3, 2p16, 2p22-p21

 276200 T-SUBSTANCE ANOMALY

%276100 TRYPTOPHANURIA WITH DWARFISM

#275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20
        Gene map locus 13q12.3

#275630 CHANARIN-DORFMAN SYNDROME; CDS
        Gene map locus 3p21

 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET

%275550 TRICHORRHEXIS NODOSA SYNDROME

 275450 TRICHOODONTOONYCHIAL DYSPLASIA

%275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA

%275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF

#275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC
        Gene map locus 13q34, 8p22-p21

 275300 TRACHEOBRONCHOMEGALY

%275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF

 275240 TINEA IMBRICATA, SUSCEPTIBILITY TO

 275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS

 275220 TIBIAL HEMIMELIA
        Gene map locus 8q24.1

#275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
        Gene map locus 1p34

#275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
        Gene map locus 14q31

 275190 TIGLIC ACIDEMIA

#275100 THYROTROPIN DEFICIENCY, ISOLATED
        THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED

#275000 GRAVES DISEASE
        GRD1, INCLUDED
        Gene map locus 20q13.11, 4q12, 2q33, 2q24, Xp11

 274900 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5

#274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4
        Gene map locus 6q24-q25

%274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

#274600 PENDRED SYNDROME; PDS
        THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B, INCLUDED
        Gene map locus 7q31

#274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
        TOTAL IODIDE ORGANIFICATION DEFECT, INCLUDED; TIOD, INCLUDED
        Gene map locus 2p25

#274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1
        Gene map locus 19p13.2-p12

#274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
        Gene map locus 3p24.3

 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA

 274240 THYROCEREBRORETINAL SYNDROME

 274230 THYMOMA, FAMILIAL

 274210 THYMIC APLASIA WITH FETAL DEATH

 274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS

 274200 THUMB, DISTAL HYPEREXTENSIBILITY OF

%274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY

#274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
        Gene map locus 9q34

%274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
        TETRAPHOCOMELIA-THROMBOCYTOPENIA SYNDROME, INCLUDED
        Gene map locus 1q21.1

%273900 THROMBOCYTOPENIA 3; THC3

#273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI
        Gene map locus 17q21.32

 273770 THREONINEMIA

#273750 THREE M SYNDROME
        YAKUT SHORT STATURE SYNDROME, INCLUDED
        Gene map locus 6p21.1

 273740 THORACOMELIC DYSPLASIA

 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME

 273680 THANATOPHORIC DYSPLASIA, GLASGOW VARIANT

 273600 THALIDOMIDE SUSCEPTIBILITY

 273490 THALAMIC DEGENERATION, SYMMETRIC INFANTILE

 273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES

#273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE
        Gene map locus 17q21

 273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES

#273300 TESTICULAR TUMORS
        TESTICULAR GERM CELL TUMOR, INCLUDED; TGCT, INCLUDED
        Gene map locus 19p13.3, 12q22, 4q12

 273250 TESTICULAR REGRESSION SYNDROME; TRS

 273150 TESTES, RUDIMENTARY

 273120 TERATOMA, PINEAL

 273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM

 273000 TEETH, FUSED

 272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR

 272950 TEEBI-SHALTOUT SYNDROME

#272800 TAY-SACHS DISEASE; TSD
        TAY-SACHS DISEASE, JUVENILE, INCLUDED
        Gene map locus 15q23-q24

 272700 TAURODONTISM

%272650 TATSUMI FACTOR DEFICIENCY

 272620 TARDIVE DYSKINESIA

 272600 TAPETORETINAL DEGENERATION WITH ATAXIA

 272550 TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA

#272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
        Gene map locus 3p14.3

 272450 SYNDESMODYSPLASIC DWARFISM

%272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION

#272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1
        Gene map locus 19p12

%272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1
        Gene map locus 6p21.3

 272350 SUMMITT SYNDROME

#272300 SULFOCYSTEINURIA
        Gene map locus Chr.12

#272200 MULTIPLE SULFATASE DEFICIENCY; MSD
        Gene map locus 3p26

 272150 SUGARMAN BRACHYDACTYLY

#272120 SUDDEN INFANT DEATH SYNDROME

 272100 SUDANOPHILIC CEREBRAL SCLEROSIS

 272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION

#271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
        Gene map locus 6p22

 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME

 271950 SUBAORTIC STENOSIS, MEMBRANOUS

#271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
        Gene map locus 19q13.33

#271900 CANAVAN DISEASE
        Gene map locus 17pter-p13

#271700 SPONDYLOPERIPHERAL DYSPLASIA
        Gene map locus 12q13.11-q13.2

 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

%271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT

%271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL

%271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE

 271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION

%271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE

%271550 SPONDYLOENCHONDRODYSPLASIA

%271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA

 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES

%271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE

 271500 SPLENOPORTAL VASCULAR ANOMALIES

%271400 SPLENIC HYPOPLASIA

 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM

 271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA

 271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY

 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM

%271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3
        Gene map locus 6p23-p21

#271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA
        Gene map locus 10q24, 10q24

 271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES

 271220 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL

 271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE

#271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
        Gene map locus 5q12.2-q13.3

 271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY

 271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION

#270970 SPHEROCYTOSIS, AUTOSOMAL RECESSIVE
        Gene map locus 1q21

#270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
        Gene map locus 12q23

 270950 SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION

 270900 SPASTIC PSEUDOSCLEROSIS

 270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION

 270805 SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY

#270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
        Gene map locus 8q21.3

%270750 SPASTIC PARAPLEGIA 23; SPG23

 270710 FITZSIMMONS-GUILBERT SYNDROME

#270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15
        Gene map locus 14q24.1

#270685 SPASTIC PARAPLEGIA 17; SPG17
        Gene map locus 11q13

%270600 SPASTIC DIPLEGIA, INFANTILE TYPE

#270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
        Gene map locus 13q12

 270500 SPASTIC ATAXIA

 270460 SONODA SYNDROME

#270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
        INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED

 270425 SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL

%270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL

#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS
        Gene map locus 11q12-q13

 270350 SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL

%270300 PEELING SKIN SYNDROME

 270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS

 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT

#270200 SJOGREN-LARSSON SYNDROME; SLS
        Gene map locus 17p11.2

%270150 SJOGREN SYNDROME

 270100 SITUS INVERSUS VISCERUM

 269950 SIDEROBLASTIC ANEMIA, AUTOSOMAL

#269921 SIALURIA
        Gene map locus 9p12-p11

#269920 INFANTILE SIALIC ACID STORAGE DISORDER
        Gene map locus 6q14-q15

 269880 SHORT SYNDROME

 269870 SHORT STATURE-OBESITY SYNDROME; SSOS

%269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV

 269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL

 269800 SENILE PLAQUE FORMATION

 269720 EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE

#269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2
        Gene map locus 11q13

 269650 SECRETORY COMPONENT DEFICIENCY

 269630 SECOND METATARSAL-METACARPAL SYNDROME

#269600 SEA-BLUE HISTIOCYTE DISEASE
        Gene map locus 19q13.2

#269500 SCLEROSTEOSIS; SOST
        Gene map locus 17q12-q21

 269400 SCLEROCORNEA

 269300 SCHWARTZ-LELEK SYNDROME

#269250 SCHNECKENBECKEN DYSPLASIA

%269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2

#269160 SCHIZENCEPHALY
        Gene map locus 10q26.1

%269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME

#269000 SC PHOCOMELIA SYNDROME
        Gene map locus 8p21.1

 268900 SARCOSINEMIA
        Gene map locus 9q33-q34

 268850 SAO PAULO MCA/MR SYNDROME

#268800 SANDHOFF DISEASE
        SANDHOFF DISEASE, ADULT TYPE, INCLUDED
        Gene map locus 5q13

%268700 SACCHAROPINURIA
        Gene map locus 7q31.3

 268650 RUDIGER SYNDROME

 268500 ROWLEY-ROSENBERG SYNDROME

#268400 ROTHMUND-THOMSON SYNDROME; RTS
        Gene map locus 8q24.3

 268320 RODRIGUES BLINDNESS

 268315 ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION

#268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
        Gene map locus 9q22

 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES

#268300 ROBERTS SYNDROME; RBS
        Gene map locus 8p21.1

 268250 RHIZOMELIC SYNDROME

 268240 RHEUMATIC FEVER-RELATED ANTIGEN
        RHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED

#268220 RHABDOMYOSARCOMA 2; RMS2
        Gene map locus 1p36.2-p36.12, 13q14.1, 2q35

#268210 RHABDOMYOSARCOMA 1; RMS1
        Gene map locus 11p15.5

%268200 RHABDOMYOLYSIS, ACUTE RECURRENT

#268150 RH-NULL, REGULATOR TYPE; RHN
        RH DEFICIENCY SYNDROME, INCLUDED
        Gene map locus 6p21.1-p11

#268130 REVESZ SYNDROME
        Gene map locus 14q12

#268100 ENHANCED S-CONE SYNDROME; ESCS
        GOLDMANN-FAVRE SYNDROME, INCLUDED
        Gene map locus 15q23

%268080 RETINOSCHISIS OF FOVEA

 268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE

 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION

 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME

 268025 RETINITIS PIGMENTOSA, LATE-ADULT ONSET

 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM

 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS

#268000 RETINITIS PIGMENTOSA; RP
        Gene map locus 19q13.3, 1q41, 16q13, 15q26, 2q14.1

 267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA

 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE

 267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA

#267750 KNOBLOCH SYNDROME, TYPE I
        Gene map locus 21q22.3

 267740 RETINAL DEGENERATION AND EPILEPSY

 267730 RETICULUM CELL SARCOMA

%267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
        Gene map locus 9q21.3-q22

%267500 RETICULAR DYSGENESIA

 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA

#267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS

#267430 RENAL TUBULAR DYSGENESIS; RTD
        RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED
        Gene map locus 1q42-q43, 1q32, 17q23, 3q21-q25

 267400 RENAL, GENITAL, AND MIDDLE EAR ANOMALIES

#267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
        Gene map locus 2cen-q13

 267200 RENAL TUBULAR ACIDOSIS III

%267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM

 266920 RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA

 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME

#266900 SENIOR-LOKEN SYNDROME 1; SLSN1
        Gene map locus 2q13

 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA

#266600 INFLAMMATORY BOWEL DISEASE 1; IBD1
        Gene map locus 19p13, 16q12, 16p, 14q11-q12, 12p13.2-q24.1, 10q23, 8p23.1, 6p, 1p32.1-p31.2, 5q31, 5q31, 3p26, 1p36

#266510 REFSUM DISEASE, INFANTILE FORM
        Gene map locus 8q21.1, 7q21-q22, 22q11.21

#266500 REFSUM DISEASE
        Gene map locus 10pter-p11.2, 6q22-q24

 266400 REESE RETINAL DYSPLASIA

%266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA

#266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2
        UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 16q24.3

#266280 RAPADILINO SYNDROME
        Gene map locus 8q24.3

 266270 RAMON SYNDROME

#266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
        Gene map locus 11p11.2

 266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA

%266250 RADICULONEUROPATHY, FATAL NEONATAL

#266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS
        Gene map locus 1q21

#266150 PYRUVATE CARBOXYLASE DEFICIENCY
        Gene map locus 11q13.4-q13.5

#266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP
        Gene map locus 1q21

#266130 GLUTATHIONE SYNTHETASE DEFICIENCY
        Gene map locus 20q11.2

#266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
        Gene map locus 7p15-p14

#266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

%265950 PYLORIC ATRESIA

%265900 PYLE DISEASE

 265880 PYKNOACHONDROGENESIS

%265850 PYGMY

#265800 PYCNODYSOSTOSIS
        Gene map locus 1q21

 265600 PULMONIC STENOSIS AND CONGENITAL NEPHROSIS

 265500 PULMONIC STENOSIS

#265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD
        Gene map locus 2q33

 265430 PULMONARY HYPOPLASIA, PRIMARY

 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE

#265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN

%265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL

 265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX

 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM

 265140 PULMONARY ARTERIOVENOUS FISTULAS

#265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
        Gene map locus 2p12-p11.2

#265100 PULMONARY ALVEOLAR MICROLITHIASIS
        Gene map locus 4p15.31-p15.2

 265050 CARNEVALE SYNDROME

#265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
        Gene map locus 2q33-q34

#264800 PSEUDOXANTHOMA ELASTICUM; PXE
        Gene map locus 17q21.3-q22, 16p13.1, 16p13.1

#264700 VITAMIN D-DEPENDENT RICKETS, TYPE I
        Gene map locus 12q13.1-q13.3

#264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
        Gene map locus 2p23

 264500 PSEUDOURIDINURIA AND MENTAL DEFECT

 264480 PSEUDOTRISOMY 13 SYNDROME

 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES

#264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
        Gene map locus 17q25

 264420 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM

#264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
        Gene map locus 16p13-p12, 16p13-p12, 12p13

#264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
        POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED
        Gene map locus 9q22

%264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES

 264180 PSEUDODIASTROPHIC DYSPLASIA

 264140 PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS

 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES

 264110 PROLACTIN DEFICIENCY, ISOLATED

%264090 PROGEROID SYNDROME, NEONATAL

 264080 PROGESTERONE RESISTANCE
        Gene map locus 11q22

#264070 HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
        Gene map locus 10q22

 264060 PREPAPILLARY VASCULAR LOOPS

 264050 PRENATAL BOWING

 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY

#263800 GITELMAN SYNDROME
        Gene map locus 16q13

%263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS

#263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC
        Gene map locus 10q25.2-q26.3

%263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE

 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION

 263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC

 263600 POLYSACCHARIDE, STORAGE OF UNUSUAL

#263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD

 263560 POLYNEUROPATHY, MIXED, OF EARLY ONSET

 263550 POLYMYOCLONUS, INFANTILE

 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES

%263530 SHORT RIB-POLYDACTYLY SYNDROME, TYPE I

%263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II

%263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

 263450 POLYDACTYLY, POSTAXIAL

#263400 ERYTHROCYTOSIS, FAMILIAL, 2
        Gene map locus 3p26-p25

#263300 POLYCYTHEMIA VERA
        Gene map locus 9p24

%263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA

#263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
        HEPATIC FIBROSIS, CONGENITAL, INCLUDED
        Gene map locus 6p21.1-p12

 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS

%263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP

 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING

%262890 SCOTT SYNDROME

 262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT

 262800 PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF

 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA

 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA

#262650 PITUITARY DWARFISM IV
        Gene map locus 17q22-q24

#262600 PITUITARY DWARFISM III
        PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE, INCLUDED
        Gene map locus 9q34.3

#262500 GROWTH HORMONE INSENSITIVITY SYNDROME
        Gene map locus 5p13-p12

#262400 PITUITARY DWARFISM I
        ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA, INCLUDED
        Gene map locus 17q22-q24

#262350 PITT SYNDROME

#262300 ACHROMATOPSIA 3; ACHM3
        Gene map locus 8q21-q22

#262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
        Gene map locus 19p13.2

 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS

#262000 BJORNSTAD SYNDROME; BJS
        Gene map locus 2q33

 261990 PILI TORTI AND DEVELOPMENTAL DELAY

 261900 PILI TORTI

 261800 PIERRE ROBIN SYNDROME

#261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
        Gene map locus 16q12-q13

#261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL

 261590 PHENFORMIN 4-HYDROXYLATION

 261575 PHAVER SYNDROME

 261560 PFEIFFER-PALM-TELLER SYNDROME

#261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
        Gene map locus 19p13.3-p13.2, 12q13

#261540 PETERS-PLUS SYNDROME

#261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY
        Gene map locus 5q2, 3p23-p22

#261500 PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS
        Gene map locus 17q23.1

 261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF

#261100 MEGALOBLASTIC ANEMIA 1
        Gene map locus 14q32, 10p12.1

#261000 INTRINSIC FACTOR DEFICIENCY; IFD
        Gene map locus 11q13

 260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN

 260950 PERIODONTITIS, CHRONIC

#260920 HYPER-IgD SYNDROME; HIDS
        Gene map locus 12q24

 260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL

 260900 PERICARDIAL EFFUSION, CHRONIC

%260800 PENTOSURIA

 260660 PELVISCAPULAR DYSPLASIA

 260650 PELLAGRA-LIKE SYNDROME

%260600 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2

 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN

%260565 PEHO SYNDROME
        PEHO-LIKE SYNDROME, INCLUDED

 260555 PARTINGTON-ANDERSON SYNDROME

#260540 PARKINSON-DEMENTIA SYNDROME
        SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, INCLUDED
        Gene map locus 17q21.1

 260530 PARANA HARD-SKIN SYNDROME

#260500 PAPILLOMA OF CHOROID PLEXUS

 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX

 260470 PANENCEPHALITIS, SUBACUTE SCLEROSING

 260450 PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE

#260400 SHWACHMAN-DIAMOND SYNDROME; SDS
        Gene map locus 7q11

#260370 PANCREATIC AGENESIS, CONGENITAL
        Gene map locus 13q12.1

#260350 PANCREATIC CARCINOMA
        Gene map locus 17p13.1, 13q12.3, 12p12.1, 3p21.1

%260300 PALLIDOPYRAMIDAL SYNDROME

 260200 PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA

 260150 PALANT CLEFT PALATE SYNDROME

 260130 PACHYONYCHIA CONGENITA, RECESSIVE

 260100 PA POLYMORPHISM OF ALPHA-2-GLOBULIN

%260005 5-@OXOPROLINASE DEFICIENCY

#260000 HYPEROXALURIA, PRIMARY, TYPE II
        Gene map locus 9cen

#259900 HYPEROXALURIA, PRIMARY, TYPE I
        Gene map locus 2q36-q37

%259780 OTOONYCHOPERONEAL SYNDROME

#259775 RAINE SYNDROME; RNS
        Gene map locus 7p22

#259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
        Gene map locus 11q13.4

 259750 OSTEOPOROSIS, JUVENILE

#259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
        Gene map locus 8q22

#259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5
        Gene map locus 6q21

#259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2
        Gene map locus 13q14

#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
        Gene map locus 11q13.4-q13.5

 259690 OSTEOPENIA AND SPARSE HAIR

 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO

 259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION

 259650 OSTEOMA OF MIDDLE EAR

 259610 OSTEOLYSIS SYNDROME, RECESSIVE

 259600 OSTEOLYSIS, HEREDITARY MULTICENTRIC

 259550 OSTEOID OSTEOMA

#259500 OSTEOGENIC SARCOMA
        Gene map locus 18q21-q22, 13q14.1-q14.2, 22q12.1

%259450 BRUCK SYNDROME 1
        Gene map locus 17p12

 259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN

#259420 OSTEOGENESIS IMPERFECTA, TYPE III
        Gene map locus 17q21.31-q22, 7q22.1

 259410 OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS

 259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI

%259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE

 259200 OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE

#259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE
        CRANIOOSTEOARTHROPATHY, INCLUDED; COA, INCLUDED

 259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES

 258920 OROTIC ACIDURIA II

%258865 OROFACIODIGITAL SYNDROME IX; OFD9

%258860 OROFACIODIGITAL SYNDROME IV; OFD4

%258850 OROFACIODIGITAL SYNDROME III; OFD3

 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS

 258800 ORAL SENSIBILITY, DISTURBANCE OF

%258700 OPTICOCOCHLEODENTATE DEGENERATION

#258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
        Gene map locus 17pter-p12

 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE

#258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III
        Gene map locus 19q13.2-q13.3

%258500 OPTIC ATROPHY 6; OPA6
        Gene map locus 8q21-q22

%258480 OPSISMODYSPLASIA

 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA

#258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE

%258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS

%258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA

 258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL

%258315 OMODYSPLASIA, GENERALIZED FORM

%258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE

 258200 OLIVER SYNDROME

%258150 OLIGOSYNAPTIC INFERTILITY

#258100 OGUCHI DISEASE
        Gene map locus 13q34, 2q37.1

 258040 OEIS COMPLEX

#257980 ODONTOONYCHODERMAL DYSPLASIA; OODD
        Gene map locus 2q35

%257970 OCULORENOCEREBELLAR SYNDROME

 257960 OCULOTRICHODYSPLASIA; OTD

 257920 OCULOPALATOSKELETAL SYNDROME

%257910 OCULOPALATOCEREBRAL SYNDROME

%257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE

%257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION

 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS

%257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY

%257550 OCULAR MOTOR APRAXIA
        Gene map locus 2q13

 257500 OBESITY-HYPOVENTILATION SYNDROME

 257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE

 257350 NUCHAL BLEB, FAMILIAL

#257320 LISSENCEPHALY 2; LIS2
        Gene map locus 7q22

#257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA

#257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B
        Gene map locus 5q35

#257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1
        NIEMANN-PICK DISEASE, TYPE D, INCLUDED
        Gene map locus 18q11-q12

#257200 NIEMANN-PICK DISEASE, TYPE A
        Gene map locus 11p15.4-p15.1

%257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD

 257100 NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA

 257000 NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES

 256870 NEUROPATHY, PAINFUL

 256860 NEUROPATHY, HEREDITARY SENSORY, ATYPICAL

%256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE

#256850 GIANT AXONAL NEUROPATHY 1; GAN1
        Gene map locus 16q24.1

#256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
        Gene map locus 5p15.2

#256810 NAVAJO NEUROHEPATOPATHY; NN
        NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED

#256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
        Gene map locus 1q21-q22

#256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
        NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
        Gene map locus 13q21.1-q32

#256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
        NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDED
        Gene map locus 1p32

 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY

#256710 ELEJALDE DISEASE

#256700 NEUROBLASTOMA
        NEUROBLASTOMA SUPPRESSOR, INCLUDED
        Gene map locus 17q21.3, 1p36.2, 4p12

 256690 NEUROFACIODIGITORENAL SYNDROME

#256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1
        NEUROAXONAL DYSTROPHY, LATE INFANTILE, INCLUDED
        Gene map locus 22q13.1

#256550 NEURAMINIDASE DEFICIENCY
        SIALIDOSIS, TYPE I, INCLUDED
        Gene map locus 6p21.3

%256520 NEU-LAXOVA SYNDROME; NLS

#256500 NETHERTON SYNDROME; NETH
        Gene map locus 5q32

#256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
        Gene map locus 11p15.1

#256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
        Gene map locus 11p13

#256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
        Gene map locus 19q13.1

 256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS

 256150 NEPHROSIALIDOSIS

 256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM

#256100 NEPHRONOPHTHISIS 1; NPHP1
        Gene map locus 2q13

#256050 ATELOSTEOGENESIS, TYPE II; AOII
        DE LA CHAPELLE DYSPLASIA, INCLUDED
        Gene map locus 5q32-q33.1

 256040 NAKAJO SYNDROME

#256030 NEMALINE MYOPATHY 2; NEM2
        Gene map locus 2q22

 256020 NAIL-PATELLA-LIKE RENAL DISEASE

#256000 LEIGH SYNDROME; LS
        LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED
        Gene map locus 19p13, 11q13, 11q13, 11p11.11, 10q24, 9q34, 7q31-q32, 5q11.1, 5p15, 2q33

 255995 NATIVE AMERICAN MYOPATHY

 255990 NATHALIE SYNDROME

%255980 NASODIGITOACOUSTIC SYNDROME

#255960 MYXOMA, INTRACARDIAC
        Gene map locus 17q23-q24

 255900 MYXEDEMA

#255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
        Gene map locus 1p36.1

 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION

#255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
        Gene map locus 7q35

 255600 MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL

 255500 MYOPIA, INFANTILE SEVERE

#255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

#255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
        MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 1, INCLUDED; CFTD1, INCLUDED
        Gene map locus 1q42.1

%255300 MYOPATHY, CONGENITAL

#255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
        Gene map locus 2q14

%255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE
        Gene map locus 3p22.2-p21.32

 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA

#255125 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
        Gene map locus 12q24.1

#255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
        Gene map locus 11q13

#255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
        Gene map locus 1p32

 255100 MYOPATHY WITH ABNORMAL LIPID METABOLISM

 254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT

 254950 MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA

 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

#254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF
        Gene map locus 4q13-q21

#254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
        FAME3, INCLUDED
        Gene map locus 21q22.3

#254780 MYOCLONIC EPILEPSY OF LAFORA
        EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED; EPM2B, INCLUDED
        Gene map locus 6q24, 6p22.3

#254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1
        Gene map locus 6p12-p11

 254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE

#254600 MYELOPEROXIDASE DEFICIENCY
        Gene map locus 17q23.1

#254500 MYELOMA, MULTIPLE
        AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED
        Gene map locus 13q22-q34, 11q13

#254450 MYELOFIBROSIS
        MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED
        Gene map locus 9p24

 254400 MYCOSIS FUNGOIDES

#254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

#254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
        Gene map locus 10q11.2

#254200 MYASTHENIA GRAVIS; MG

 254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS

%254150 MUSK, INABILITY TO SMELL

#254130 MIYOSHI MYOPATHY; MM
        Gene map locus 2p13.3-p13.1

 254120 MUSCULAR HYPERTONIA, LETHAL

#254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H
        Gene map locus 9q31-q34.1

 254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION

#254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD
        Gene map locus 2q37, 21q22.3, 21q22.3

 254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM

%253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS

#253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
        Gene map locus 9q31

#253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
        Gene map locus 13q12

#253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
        Gene map locus 2p13.3-p13.1

#253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
        MYOSITIS, EOSINOPHILIC, INCLUDED
        Gene map locus 15q15.1-q21.1

 253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY

#253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
        Gene map locus 5q12.2-q13.3

#253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
        Gene map locus 5q12.2-q13.3

 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM

#253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1
        Gene map locus 9q34

#253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
        Gene map locus 5q12.2-q13.3

#253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
        Gene map locus 2q33-q34, 2q33-q34, 2q24-q32

#253280 MUSCLE-EYE-BRAIN DISEASE; MEB
        Gene map locus 19q13.3, 1p34-p33

#253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
        Gene map locus 21q22.1

#253260 BIOTINIDASE DEFICIENCY
        MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
        Gene map locus 3p25

#253250 MULIBREY NANISM
        Gene map locus 17q22-q23

%253240 MUCUS INSPISSATION OF RESPIRATORY TRACT

#253230 MUCOPOLYSACCHARIDOSIS TYPE VIII

#253220 MUCOPOLYSACCHARIDOSIS TYPE VII
        Gene map locus 7q21.11

#253200 MUCOPOLYSACCHARIDOSIS TYPE VI
        Gene map locus 5q11-q13

#253010 MORQUIO SYNDROME B
        Gene map locus 3p21.33

#252940 MUCOPOLYSACCHARIDOSIS TYPE IIID
        Gene map locus 12q14

#252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC
        Gene map locus 8p11.1

#252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB
        Gene map locus 17q21

#252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA
        Gene map locus 17q25.3

#252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES

#252650 MUCOLIPIDOSIS IV
        Gene map locus 19p13.3-p13.2

#252605 MUCOLIPIDOSIS III GAMMA
        Gene map locus 16p

#252600 MUCOLIPIDOSIS III ALPHA/BETA
        MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
        Gene map locus 12q23.3

#252500 MUCOLIPIDOSIS II ALPHA/BETA
        Gene map locus 12q23.3

%252350 MOYAMOYA DISEASE 1; MYMY1
        Gene map locus 3p26-p24.2

 252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA

 252300 MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE

 252270 MONOSOMY 7 OF BONE MARROW

 252250 MONOCYTE CHEMOTACTIC DISORDER

 252200 MONILETHRIX

#252150 MOLYBDENUM COFACTOR DEFICIENCY
        MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A, INCLUDED
        Gene map locus 14q24, 6p21.3, 5q11

%252100 MOHR SYNDROME

#252011 MITOCHONDRIAL COMPLEX II DEFICIENCY
        Gene map locus 5p15

#252010 MITOCHONDRIAL COMPLEX I DEFICIENCY
        Gene map locus 1q23, 11q13, 6q16.1, 5q12.1, 5q11.1, 5pter-p15.33, 2q33-q34, Xq24

 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS

 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT

 251900 MITOCHONDRIAL MYOPATHY

#251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
        Gene map locus 10q24, 2p13, 2p23-p21

%251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY

%251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS

 251750 MICROSPHEROPHAKIA

 251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES

%251600 MICROPHTHALMIA, ISOLATED 1; MCOP1
        Gene map locus 14q32

 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4

 251455 MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS

%251450 DESBUQUOIS SYNDROME; DBQD
        Gene map locus 17q25.3

 251400 MICROCOLON

%251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME

 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA

%251270 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE
        CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME, INCLUDED

#251260 NIJMEGEN BREAKAGE SYNDROME
        BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDED
        Gene map locus 8q21

%251255 MICROCEPHALY WITH DIGITAL ANOMALIES

 251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES

 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA

%251230 MICROCEPHALY-MICROMELIA SYNDROME

 251220 MICROCEPHALY-CARDIOMYOPATHY

#251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
        Gene map locus 19q13.1-q13.2, 15q15-q21, 8p23

 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE

#251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY
        METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED

#251110 METHYLMALONIC ACIDURIA, cblB TYPE
        Gene map locus 12q24

#251100 METHYLMALONIC ACIDURIA, cblA TYPE
        Gene map locus 4q31.1-q31.2

#251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
        METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
        Gene map locus 6p21

 250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV

#250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
        Gene map locus Chr.9

#250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE
        Gene map locus 1q43

%250900 METHIONINE MALABSORPTION SYNDROME

#250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
        Gene map locus 10q22

 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY

 250650 METHANE PRODUCTION

#250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF
        Gene map locus 2q32.2

%250600 METATROPIC DWARFISM

 250500 METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA

#250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
        Gene map locus 9p21-p12

 250450 METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY

 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS

 250410 METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA

 250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE

 250300 METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE

#250250 CARTILAGE-HAIR HYPOPLASIA; CHH
        Gene map locus 9p21-p12

 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE

%250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

%250215 METAPHYSEAL ACROSCYPHODYSPLASIA

#250100 METACHROMATIC LEUKODYSTROPHY
        PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
        Gene map locus 22q13.31-qter

#249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
        Gene map locus 10q22.1

 249710 MESOMELIC LIMB SHORTENING AND BOWING

#249700 LANGER MESOMELIC DYSPLASIA
        Gene map locus Ypter-p11.2, Xpter-p22.32

 249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION

 249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES

%249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU

 249630 MENTAL RETARDATION, BUENOS AIRES TYPE

%249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH

 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE

 249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE

#249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1
        Gene map locus 4q25-q26

 249400 MELANOSIS, NEUROCUTANEOUS

%249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME

 249300 MEGALOCORNEA

#249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA
        Gene map locus 1q23.3

 249240 MEGALENCEPHALY WITH DYSMYELINATION

 249230 MEGAEPIPHYSEAL DWARFISM

%249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

#249100 FAMILIAL MEDITERRANEAN FEVER; FMF
        Gene map locus 16p13

#249000 MECKEL SYNDROME, TYPE 1; MKS1
        Gene map locus 17q23

 248950 MCDONOUGH SYNDROME

 248910 MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA

#248900 MAST SYNDROME
        Gene map locus 15q21-q22

#248800 MARINESCO-SJOGREN SYNDROME; MSS
        Gene map locus 5q31

 248770 MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL

 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS

%248700 MARDEN-WALKER SYNDROME

#248600 MAPLE SYRUP URINE DISEASE
        MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED
        Gene map locus 19q13.1-q13.2, 7q31-q32, 1p31, 6q14

#248510 MANNOSIDOSIS, BETA A, LYSOSOMAL
        Gene map locus 4q22-q25

#248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL
        ALPHA-MANNOSIDOSIS, TYPE II, INCLUDED
        Gene map locus 19cen-q12

 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA

 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY

 248390 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE

#248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA
        Gene map locus 1q21.2

#248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY
        Gene map locus 16q24

 248350 MALOCCLUSION AND SHORT STATURE

 248340 MALPUECH FACIAL CLEFTING SYNDROME

%248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
        Gene map locus 5q31-q33

#248300 MAL DE MELEDA
        Gene map locus 8qter

 248260 MAGNESIUM, ELEVATED RED CELL

#248250 HYPOMAGNESEMIA 3, RENAL; HOMG3
        Gene map locus 3q27

#248200 STARGARDT DISEASE 1; STGD1
        FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED
        Gene map locus 8q21-q22, 1p21-p13

#248190 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
        Gene map locus 1p34.2

 248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL

 248100 MACROSOMIA ADIPOSA CONGENITA

 248010 MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE

 248000 MACROCEPHALY

 247990 MACDERMOT-WINTER SYNDROME

 247950 LYSINE MALABSORPTION SYNDROME

%247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS

 247650 LYMPHOKINE DEFICIENCY

 247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL
        Gene map locus 9p22-p21

 247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE

 247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP

 247450 LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN

 247440 LYMPHEDEMA, CONGENITAL RECESSIVE

 247430 LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF

 247420 LUTHERAN NULL

 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME

#247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
        MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
        Gene map locus 17p13.3

 247150 LIP PRINTS

#247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE
        Gene map locus 1q21

#246700 CHYLOMICRON RETENTION DISEASE; CMRD
        Gene map locus 5q31.1

#246650 LIPASE DEFICIENCY, COMBINED
        Gene map locus 16p13.3

 246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME

 246560 LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA

 246555 LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY

 246550 LICHTENSTEIN SYNDROME

 246500 LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS

 246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER

%246400 LETTERER-SIWE DISEASE

#246300 LEPROSY, SUSCEPTIBILITY TO
        LEPROSY, SUSCEPTIBILITY TO, 3, INCLUDED; LPRS3, INCLUDED
        Gene map locus 4q32

#246200 DONOHUE SYNDROME
        INSULIN RECEPTOR, DEFECT IN, INCLUDED
        Gene map locus 19p13.2

%246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT

#245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
        Gene map locus 16q22.1

 245800 LAURENCE-MOON SYNDROME

#245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS
        Gene map locus 18q11.2

 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE

%245600 LARSEN SYNDROME, RECESSIVE

#245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
        Gene map locus 17q11.2

 245570 LANDAU-KLEFFNER SYNDROME; LKS

 245552 LAMBOTTE SYNDROME

 245550 LAMBERT SYNDROME

#245480 SPECIFIC GRANULE DEFICIENCY; SGD
        Gene map locus 14q11.2

 245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID

#245400 LACTIC ACIDOSIS, FATAL INFANTILE
        Gene map locus 2p11.2

#245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
        Gene map locus 11p13

#245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY

#245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT
        Gene map locus 1p13.2-p12

#245300 KURU, SUSCEPTIBILITY TO

#245200 KRABBE DISEASE
        Gene map locus 14q31

 245190 KNIEST-LIKE DYSPLASIA, LETHAL

 245180 KIFAFA SEIZURE DISORDER

 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS

#245150 KEUTEL SYNDROME
        Gene map locus 12p13.1-p12.3

 245130 KETOADIPICACIDURIA

%245100 KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES

#245050 SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
        Gene map locus 5p13

#245010 HAIM-MUNK SYNDROME; HMS
        Gene map locus 11q14.1-q14.3

#245000 PAPILLON-LEFEVRE SYNDROME; PALS
        Gene map locus 11q14.1-q14.3

 244850 KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE

 244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC
        KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED

 244510 KERATOCONUS AND CONGENITAL HIP DYSPLASIA

#244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS
        Gene map locus 1q42-q43

%244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME

#244400 KARTAGENER SYNDROME
        Gene map locus 9p21-p13, 7p21, 5p15-p14

 244300 KAPUR-TORIELLO SYNDROME

#244200 KALLMANN SYNDROME 3; KAL3
        Gene map locus 20p13

 244100 JUMPING FRENCHMAN OF MAINE

%243910 ARIMA SYNDROME

#243800 JOHANSON-BLIZZARD SYNDROME; JBS
        Gene map locus 15q15-q21.1

%243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

 243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES

%243600 JEJUNAL ATRESIA

#243500 ISOVALERIC ACIDEMIA; IVA
        Gene map locus 15q14-q15

 243450 ISOVALERIC ACID, INABILITY TO SMELL

 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME

#243400 ACETYLATION, SLOW
        ACETYLATION, FAST, INCLUDED
        Gene map locus 8p23.1-p21.3

 243320 INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF

 243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION

#243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1
        Gene map locus 18q21

 243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC

 243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH

%243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
        NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED

%243150 INTESTINAL ATRESIA, MULTIPLE

 243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO

 243100 INTERNAL CAROTID ARTERIES, HYPOPLASIA OF

 243080 INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO

#243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA
        Gene map locus 19q13.3-qter

 243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION

#243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE
        Gene map locus 2q24

#242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE
        Gene map locus 2q34-q36

 242890 IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW

 242880 IMMUNOERYTHROMYELOID HYPOPLASIA

 242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES

#242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
        Gene map locus 20q11.2

 242850 IMMUNE DEFICIENCY DISEASE

%242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM

%242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS

 242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA

%242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES

#242650 PRIMARY CILIARY DYSKINESIA; PCD
        CILIARY DYSKINESIA, PRIMARY, 1, INCLUDED; CILD1, INCLUDED
        Gene map locus 9p21-p13

%242600 IMINOGLYCINURIA

 242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA

 242530 ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT

 242520 ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION

 242510 ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION

#242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
        Gene map locus 2q34

 242400 ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA

#242300 ICHTHYOSIS, LAMELLAR, 1; LI1
        SELF-HEALING COLLODION BABY, INCLUDED
        Gene map locus 14q11.2

 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS

#242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1
        Gene map locus 17p13.1, 17p13.1, 14q11.2

 242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY

#241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
        HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE, INCLUDED
        Gene map locus 9q22

 241800 HYPOTHALAMIC HAMARTOMAS
        CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED
        Gene map locus 7p13

 241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME

#241600 HYPOPROTEINEMIA, HYPERCATABOLIC
        Gene map locus 15q21-q22

#241550 HYPOPLASTIC LEFT HEART SYNDROME
        Gene map locus 6q21-q23.2

 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS

#241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH
        Gene map locus 9q34

#241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE

 241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS

#241510 HYPOPHOSPHATASIA, CHILDHOOD
        Gene map locus 1p36.1-p34

#241500 HYPOPHOSPHATASIA, INFANTILE
        Gene map locus 1p36.1-p34

#241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD
        Gene map locus 1q42-q43

%241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS

#241200 BARTTER SYNDROME, ANTENATAL, TYPE 2
        Gene map locus 11q24

%241150 HYPOKALEMIA, FAMILIAL

 241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES

 241100 HYPOGONADISM, MALE

 241090 HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA

%241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME

 241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY

 240950 HYPOGONADISM-CATARACT SYNDROME

 240900 HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA

#240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH
        Gene map locus 11p15.1

#240600 GLYCOGEN STORAGE DISEASE 0, LIVER
        Gene map locus 12p12.2

#240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID
        Gene map locus 17p11.2

 240400 HYPOASCORBEMIA
        L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED; GULOP, INCLUDED
        Gene map locus 8p21.1

#240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1
        POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED
        Gene map locus 21q22.3

%240200 HYPOADRENOCORTICISM, FAMILIAL

 240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO

 240000 HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE

 239900 HYPERTROPHIC NEUROPATHY AND CATARACT

%239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA

 239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY

%239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME

 239711 HYPERTELORISM AND TETRALOGY OF FALLOT

 239710 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE

#239510 HYPERPROLINEMIA, TYPE II
        Gene map locus 1p36

#239500 HYPERPROLINEMIA, TYPE I
        Gene map locus 22q11.2

 239400 HYPERPIPECOLATEMIA

 239350 HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES

%239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION

#239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT
        Gene map locus 3q13.3-q21

 239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA

#239100 HYPEROSTOSIS CORTICALIS GENERALISATA
        Gene map locus 17q12-q21

#239000 PAGET DISEASE, JUVENILE
        Gene map locus 8q24

#238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
        Gene map locus 13q14

 238950 HYPEROPIA, HIGH

 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA

 238750 HYPERLYSINURIA WITH HYPERAMMONEMIA

 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA

#238700 HYPERLYSINEMIA
        Gene map locus 7q31.3

#238600 HYPERLIPOPROTEINEMIA, TYPE I
        Gene map locus 8p22

 238350 HYPERLEXIA

 238340 HYPERLEUCINE-ISOLEUCINEMIA

%238320 HYPERGONADOTROPIC HYPOGONADISM; HHG

#237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
        BREASTFEEDING JAUNDICE, INCLUDED
        Gene map locus 2q37

%237800 HYPERBILIRUBINEMIA, SHUNT

 237550 HYPERBILIRUBINEMIA, CONJUGATED, TYPE III

#237500 DUBIN-JOHNSON SYNDROME; DJS
        Gene map locus 10q24

%237450 HYPERBILIRUBINEMIA, ROTOR TYPE

 237400 HYPER-BETA-ALANINEMIA

#237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
        Gene map locus 17q21.31

#237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
        Gene map locus 2q35

 237100 HYMEN, IMPERFORATE

 237000 HYDROXYPROLINEMIA

%236900 HYDROXYLYSINURIA

%236800 HYDROXYKYNURENINURIA

%236795 3-@HYDROXYISOBUTYRIC ACIDURIA

#236792 L-2-HYDROXYGLUTARIC ACIDURIA
        Gene map locus 14q22.1

#236750 HYDROPS FETALIS, IDIOPATHIC

%236730 UROFACIAL SYNDROME; UFS
        Gene map locus 10q23-q24

#236700 MCKUSICK-KAUFMAN SYNDROME; MKKS
        Gene map locus 20p12

 236690 HYDROCEPHALUS, NORMAL-PRESSURE

#236680 HYDROLETHALUS SYNDROME 1
        Gene map locus 11q24.2

#236670 WALKER-WARBURG SYNDROME; WWS
        MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION, INCLUDED
        Gene map locus 19q13.3, 14q24.3, 9q34.1, 9q31, 22q12.3-q13.1

 236660 HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS

 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS

 236635 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

 236600 HYDROCEPHALUS

 236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA

#236490 HYALINOSIS, INFANTILE SYSTEMIC
        Gene map locus 4q21

 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME

 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES

%236400 HUMERORADIAL SYNOSTOSIS
        HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME; INCLUDED

 236300 HOOFT DISEASE

#236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE
        Gene map locus 5p15.3-p15.2

#236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
        MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED
        Gene map locus 1p36.3

 236130 HOMOCARNOSINOSIS

 236110 HOLZGREVE SYNDROME

%236100 HOLOPROSENCEPHALY
        HOLOPROSENCEPHALY 1, INCLUDED; HPE1, INCLUDED
        Gene map locus 2q37.1-q37.3, 21q22.3

 236000 HODGKIN LYMPHOMA

%235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME

%235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT

#235800 HISTIDINEMIA
        Gene map locus 12q22-q23

 235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES

 235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT

 235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS

#235730 MOWAT-WILSON SYNDROME
        Gene map locus 2q22

#235700 HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA

#235600 HERMAPHRODITISM, TRUE

#235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2

#235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
        Gene map locus 2q37.1

%235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME

 235500 HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN

#235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS
        HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
        Gene map locus 1q32, 1q32

 235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS

 235360 HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA

%235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY

%235000 HEMIHYPERPLASIA, ISOLATED; IH
        HEMI-3 SYNDROME, INCLUDED
        Gene map locus 11p15

 234820 HEMANGIOPERICYTOMA, MALIGNANT

 234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY

 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES

 234750 HEART, MALFORMATION OF

 234700 HEART BLOCK, CONGENITAL

 234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS

#234500 HARTNUP DISORDER
        Gene map locus 5p15

 234350 HALOTHANE HEPATITIS

 234300 HALO NEVI

 234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY

 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME

#234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
        Gene map locus 20p13-p12.3

 234100 HALLERMANN-STREIFF SYNDROME; HSS

#234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1
        Gene map locus 7p14

 234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION

#234000 FACTOR XII DEFICIENCY
        Gene map locus 5q33-qter

#233910 GTP CYCLOHYDROLASE I DEFICIENCY
        Gene map locus 14q22.1-q22.2

 233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA

 233805 GROWTH FACTORS, COMBINED DEFECT OF

 233800 GROUPED PIGMENTATION OF THE MACULA

#233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
        Gene map locus 1q25

#233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I
        Gene map locus 7q11.23

#233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE
        Gene map locus 16q24

 233670 GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS

#233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
        Gene map locus 11p13, 11p13

 233600 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY

 233500 GORLIN-CHAUDHRY-MOSS SYNDROME

 233450 GOODPASTURE SYNDROME

 233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES

%233420 GONADAL DYSGENESIS, XY TYPE
        GONADAL DYSGENESIS, 46,XY, PURE, INCLUDED
        Gene map locus 5cen

%233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS

#233300 OVARIAN DYSGENESIS 1; ODG1
        Gene map locus 2p21-p16

 233270 GOMBO SYNDROME

#233100 RENAL GLUCOSURIA; GLYS1
        Gene map locus 16p11.2

 232900 GLYCOPROTEIN STORAGE DISEASE

#232800 GLYCOGEN STORAGE DISEASE VII
        Gene map locus 12q13.3

#232600 GLYCOGEN STORAGE DISEASE V
        Gene map locus 11q13

#232500 GLYCOGEN STORAGE DISEASE IV
        GSD IV, CLASSIC HEPATIC, INCLUDED
        Gene map locus 3p12

#232400 GLYCOGEN STORAGE DISEASE III
        GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED
        Gene map locus 1p21

#232300 GLYCOGEN STORAGE DISEASE II
        Gene map locus 17q25.2-q25.3

#232240 GLYCOGEN STORAGE DISEASE Ic
        GLYCOGEN STORAGE DISEASE Id, INCLUDED; GSD1D, INCLUDED
        Gene map locus 11q23, 6p21.3

#232220 GLYCOGEN STORAGE DISEASE Ib
        Gene map locus 11q23

 231970 GLUTEAL MUSCLES, ABSENCE OF

#231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
        Gene map locus 20q11.2

 231690 GLUTARYL-CoA OXIDASE DEFICIENCY

#231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
        GLUTARIC ACIDURIA IIA, INCLUDED
        Gene map locus 19q13.3, 15q23-q25, 4q32-qter

#231670 GLUTARIC ACIDEMIA I
        Gene map locus 19p13.2

 231630 GLUTAMATE MONOSODIUM SENSITIVITY

#231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA
        ACHALASIA-ALACRIMA SYNDROME, INCLUDED
        Gene map locus 12q13

#231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
        Gene map locus 4q22-q26

#231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
        Gene map locus 2p22-p21

#231200 GIANT PLATELET SYNDROME
        MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED
        Gene map locus 17pter-p12, 3q21, 22q11.2

 231100 HEMOCHROMATOSIS, NEONATAL

#231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD
        Gene map locus 7q34

#231090 HYDATIDIFORM MOLE
        Gene map locus 19q13.4

 231080 GERMAN SYNDROME

%231070 GERODERMA OSTEODYSPLASTICA; GO

 231060 GENITOPALATOCARDIAC SYNDROME

%231050 GELEOPHYSIC DYSPLASIA

#231005 GAUCHER DISEASE, TYPE IIIC
        Gene map locus 1q21

#231000 GAUCHER DISEASE, TYPE III
        GAUCHER DISEASE, TYPE IIIA, INCLUDED
        Gene map locus 1q21

#230900 GAUCHER DISEASE, TYPE II
        Gene map locus 1q21

#230800 GAUCHER DISEASE, TYPE I
        Gene map locus 1q21

 230750 GASTROSCHISIS
        ABDOMINAL WALL DEFECTS, INCLUDED

%230740 GAPO SYNDROME

 230710 GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT

%230700 GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE

#230650 GM1-GANGLIOSIDOSIS, TYPE III
        Gene map locus 3p21.33

#230600 GM1-GANGLIOSIDOSIS, TYPE II
        GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
        Gene map locus 3p21.33

#230500 GM1-GANGLIOSIDOSIS, TYPE I
        GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED
        Gene map locus 3p21.33

#230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
        Gene map locus 6p12

#230400 GALACTOSEMIA
        Gene map locus 9p13

#230350 GALACTOSE EPIMERASE DEFICIENCY
        Gene map locus 1p36-p35

 230300 GALACTORRHEA

#230200 GALACTOKINASE DEFICIENCY
        Gene map locus 17q24

%229850 FRYNS SYNDROME; FRNS

#229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
        Gene map locus 9q22.2-q22.3

 229650 FRUCTOSE UTILIZATION

%229500 FRUCTOSE AND GALACTOSE INTOLERANCE

%229400 FRONTOFACIONASAL DYSOSTOSIS

 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA

#229300 FRIEDREICH ATAXIA 1; FRDA
        FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED
        Gene map locus 9q13, 9p23-p11

 229250 FREESIA FLOWERS, INABILITY TO SMELL

 229230 FRASER-LIKE SYNDROME

#229200 BRITTLE CORNEA SYNDROME; BCS
        EHLERS-DANLOS SYNDROME VI PHENOTYPE WITH MACROCEPHALY, INCLUDED
        Gene map locus 16q24

 229120 FOUNTAIN SYNDROME

#229100 FORMIMINOTRANSFERASE DEFICIENCY
        Gene map locus 21q22.3

#229070 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED
        Gene map locus 11p13

%229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING

 229045 FOCAL EPITHELIAL HYPERPLASIA, ORAL

 228990 FLECK RETINA OF KANDORI

 228980 FLECK RETINA, FAMILIAL BENIGN

 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES

#228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
        Gene map locus 3p25

#228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
        Gene map locus 20q11.2

 228800 FIBROSCLEROSIS, MULTIFOCAL

#228600 FIBROMATOSIS, JUVENILE HYALINE
        Gene map locus 4q21

 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES

%228550 FIBROMATOSIS, CONGENITAL GENERALIZED; CGF
        MYOFIBROMATOSIS, JUVENILE, INCLUDED

%228520 FIBROCHONDROGENESIS

 228400 FEVER, FAMILIAL LIFELONG PERSISTENT

 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD

#228300 FERTILE EUNUCH SYNDROME
        Gene map locus 4q21.2

%228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY

 228200 FEMUR-FIBULA-ULNA SYNDROME

%228100 FATTY METAMORPHOSIS OF VISCERA

 228020 FASCIAL DYSTROPHY, CONGENITAL

 227850 FANCONI-LIKE SYNDROME

#227810 FANCONI-BICKEL SYNDROME; FBS
        Gene map locus 3q26.1-q26.3

#227650 FANCONI ANEMIA; FA
        FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED
        Gene map locus 16q24.3

%227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE

 227320 FACIOTHORACOGENITAL SYNDROME

 227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR

#227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D
        Gene map locus 18q21.3-q22, 2p21-p16.3

 227280 FACIOCARDIORENAL SYNDROME

 227270 FACIOCARDIOMELIC DYSPLASIA, LETHAL

%227260 FACIAL ECTODERMAL DYSPLASIA

 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS

 227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION

#227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
        Gene map locus 5p13.3

#227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
        Gene map locus 15q13.1, 15q11.2-q12

 227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY

 227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC
        Gene map locus 8p21-p11.2

%227150 ETHANOLAMINOSIS

%227090 ERYTHRODERMA, LETHAL CONGENITAL

%227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD
        Gene map locus 19q13.2

 227010 ERMINE PHENOTYPE
        BLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS SYNDROME, INCLUDED

 227000 ERYTHEMA OF ACRAL REGIONS

 226990 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY

 226985 EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT

#226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
        Gene map locus 2p12

%226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS

 226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS

#226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4
        Gene map locus 5q32-q33.1

 226850 EPILEPSY-TELANGIECTASIA

 226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS

 226800 EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION

%226750 KOHLSCHUTTER-TONZ SYNDROME

 226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA

#226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
        Gene map locus 17q11-qter, Chr.2

#226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
        Gene map locus 18q11.2, 1q32, 1q25-q31

#226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY
        Gene map locus 8q24

#226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
        EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED
        Gene map locus 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3

#226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
        EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED
        Gene map locus 11q22-q23, 3p21.3

%226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA

 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION

#226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
        Gene map locus 17q25, 17q25

 226350 EOSINOPHILIC FASCIITIS

%226300 ENTEROPATHY, PROTEIN-LOSING
        Gene map locus 16q24.3

#226200 ENTEROKINASE DEFICIENCY
        Gene map locus 21q21

 226150 ENTEROCOLITIS

 226110 ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA

 226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA

 226000 ENDOCARDIAL FIBROELASTOSIS; EFE

%225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV

 225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION

 225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA

#225750 AICARDI-GOUTIERES SYNDROME 1; AGS1
        Gene map locus 3p21.3-p21.2

 225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS

 225700 ENCEPHALOMALACIA, MULTILOCULAR

#225500 ELLIS-VAN CREVELD SYNDROME; EVC
        Gene map locus 4p16, 4p16

 225450 ELLIPTOCYTOSIS, ATYPICAL

#225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
        Gene map locus 5q23

#225400 EHLERS-DANLOS SYNDROME, TYPE VI
        Gene map locus 1p36.3-p36.2

#225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
        Gene map locus 7q22.1

 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY

 225300 ECTRODACTYLY

 225290 ECTRODACTYLY-POLYDACTYLY

#225280 EEM SYNDROME

%225200 ECTOPIA LENTIS WITH ECTOPIA OF PUPIL

 225100 ECTOPIA LENTIS

#225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1
        OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED
        Gene map locus 11q23-q24

 225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA

 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM

%225000 ROSSELLI-GULIENETTI SYNDROME
        Gene map locus 11q23-q24

#224900 ECTODERMAL DYSPLASIA, ANHIDROTIC
        Gene map locus 2q11-q13, 1q42.2-q43

 224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS

%224750 SCHOPF-SCHULZ-PASSARGE SYNDROME

 224700 EBSTEIN ANOMALY

%224690 EAR, PATELLA, SHORT STATURE SYNDROME

 224550 DYSTONIA WITH RINGBINDEN

%224500 DYSTONIA, TORSION, 2, AUTOSOMAL RECESSIVE; DYT2

#224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
        Gene map locus 1p36.1

%224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE

%224300 DYSOSTEOSCLEROSIS

 224250 DYSMYELINATION WITH JAUNDICE

#224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE
        Gene map locus 15q14-q15

 224200 DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE

#224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I
        Gene map locus 15q15

%224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2
        Gene map locus 20q11.2

#224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH
        CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION, VLDLR-ASSOCIATED, INCLUDED
        Gene map locus 9p24

 224000 DYSAUTONOMIA-LIKE DISORDER

#223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
        Gene map locus 9q31

#223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
        Gene map locus 18q12-q21.1

 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION

 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY

 223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE

 223400 DUODENAL ATRESIA

 223380 DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF

%223370 DUBOWITZ SYNDROME

#223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
        Gene map locus 9q34

 223350 DOHLE BODIES AND LEUKEMIA

 223340 DK PHOCOMELIA SYNDROME

 223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT

 223320 DIVERTICULOSIS, SMALL-INTESTINAL

 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY

 223200 DISORGANIZATION, MOUSE, HOMOLOG OF

#223100 LACTASE PERSISTENCE
        HYPOLACTASIA, ADULT TYPE, INCLUDED
        Gene map locus 2q21, 2q21

#223000 LACTASE DEFICIENCY, CONGENITAL

#222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
        Gene map locus 3q25-q26

#222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
        Gene map locus 1q42

 222760 DIGITORENOCEREBRAL SYNDROME

 222730 DICARBOXYLICAMINO ACIDURIA
        Gene map locus 9p24

#222700 LYSINURIC PROTEIN INTOLERANCE; LPI
        Gene map locus 14q11.2

%222690 DIBASIC AMINO ACIDURIA I

#222600 DIASTROPHIC DYSPLASIA
        DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED
        Gene map locus 5q32-q33.1

 222500 DIASTEMATOMYELIA

%222470 TRICHOHEPATOENTERIC SYNDROME

#222448 DONNAI-BARROW SYNDROME
        Gene map locus 2q24-q31

%222400 DIAPHRAGMATIC HERNIA 2; DIH2
        Gene map locus 8p23.1

 222350 DIAMINOPENTANURIA

#222300 WOLFRAM SYNDROME 1; WFS1
        WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, INCLUDED
        Gene map locus 4p16.1

%222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
        DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED; IDDM1, INCLUDED
        Gene map locus 12q24.2, 12q24.2, 1p13, 6p21.3, 6pter-p21, Xp11.23-q13.3

 221995 DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION

 221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA

%221900 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC
        Gene map locus 10q21

 221820 GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL
        Gene map locus 17q21-q22

 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE

%221800 DERMOCHONDROCORNEAL DYSTROPHY

 221790 DERMATOLEUKODYSTROPHY

 221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH

#221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
        Gene map locus 19q13.1, 6p21.2

 221760 DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF

 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM

 221740 DEAFNESS-OLIGODONTIA SYNDROME

 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS

 221500 DEAFNESS, NEURAL, CONGENITAL MODERATE

 221400 DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY

%221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA

 221320 DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES

%221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR

 221200 DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT

 220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM

#220700 DEAFNESS, AUTOSOMAL RECESSIVE

%220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS
        Gene map locus 7q21.2-q21.3

%220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME

#220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1
        Gene map locus 11p15.5, 21q22.1-q22.2

 220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY

#220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
        DEAFNESS, NONSYNDROMIC SENSORINEURAL, DIGENIC, INCLUDED
        Gene map locus 13q11-q12

 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY

 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY

%220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT

%220200 DANDY-WALKER SYNDROME; DWS
        Gene map locus 3q24, 3q24

#220150 HYPOURICEMIA, RENAL
        URIC ACID UROLITHIASIS, INCLUDED
        Gene map locus 11q13

%220120 D-GLYCERIC ACIDEMIA

#220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC
        Gene map locus 2p21-p16

#220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY

#220100 CYSTINURIA
        CYSTINURIA, TYPE A, INCLUDED
        Gene map locus 2p16.3

#219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
        Gene map locus 17p13

#219800 CYSTINOSIS, NEPHROPATHIC; CTNS
        CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED
        Gene map locus 17p13

#219750 CYSTINOSIS, ADULT NONNEPHROPATHIC
        Gene map locus 17p13

 219730 CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY

 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY

#219700 CYSTIC FIBROSIS; CF
        Gene map locus 19q13.1, 7q31.2

 219600 CYSTIC DISEASE OF LUNG

 219550 CYSTEINE PEPTIDURIA

#219500 CYSTATHIONINURIA
        Gene map locus 1p31.1

 219400 CYANOSIS AND HEPATIC DISEASE

 219300 CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY; CVG/MR

 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC

#219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II
        Gene map locus 12q24.3

%219150 CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION

#219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
        Gene map locus 14q32.1, 11q13, 5q23.3-q31.2

 219095 CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL

#219090 PITUITARY ADENOMA, ACTH-SECRETING
        Gene map locus 11q13.3

#219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH

 219070 CURVED NAIL OF FOURTH TOE

#219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL
        Gene map locus 19p13.2, 13q13.1

#219000 FRASER SYNDROME
        CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED
        Gene map locus 13q13.3, 4q21

%218900 CROME SYNDROME

#218800 CRIGLER-NAJJAR SYNDROME
        Gene map locus 2q37

#218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
        Gene map locus 2q12-q14

 218670 CRANIOTELENCEPHALIC DYSPLASIA

 218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME

 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG

#218600 BALLER-GEROLD SYNDROME; BGS
        Gene map locus 8q24.3

 218550 CRANIOSYNOSTOSIS WITH FIBULAR APLASIA

 218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS

 218500 CRANIOSYNOSTOSIS
        SCAPHOCEPHALY, INCLUDED

 218455 CRANIOSYNOSTOSIS-MICROCEPHALY WITH CHROMOSOMAL BREAKAGE AND OTHER ABNORMALITIES

 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS

%218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR
        Gene map locus 6q21-q22

 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE

 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION

%218330 CRANIOECTODERMAL DYSPLASIA

 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD

 218200 CRANIAL NERVES, RECURRENT PARESIS OF

%218100 CRANIAL NERVES, CONGENITAL PARESIS OF

 218090 CRANE-HEISE SYNDROME

 218050 CRAMPS, FAMILIAL ADOLESCENT

#218040 COSTELLO SYNDROME
        MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS; INCLUDED
        Gene map locus 12p12.1, 11p15.5

 218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY

#218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
        Gene map locus 15q13-q14

 217990 CORPUS CALLOSUM, AGENESIS OF

%217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE

#217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1
        MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED
        Gene map locus 16q22

#217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2
        Gene map locus 20p13-p12

 217600 CORNEAL DYSTROPHY, CENTRAL TYPE

 217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID

%217500 CORNEAL DYSTROPHY, BAND-SHAPED

#217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
        Gene map locus 20p13-p12, 20p13

#217300 CORNEA PLANA 2; CNA2
        Gene map locus 12q22

 217200 CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET

 217150 CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA

%217100 CONSTRICTING BANDS, CONGENITAL
        ADAM COMPLEX, INCLUDED

#217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM
        TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED
        Gene map locus 19p12, 8p21, 2q21.1, 22q11.2

#217090 PLASMINOGEN DEFICIENCY, TYPE I
        LIGNEOUS CONJUNCTIVITIS, INCLUDED
        Gene map locus 6q26

 217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY

%217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA

 216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT

#216900 ACHROMATOPSIA 2; ACHM2
        Gene map locus 2q11

 216820 COLOBOMA, OCULAR

 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES

%216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING

#216550 COHEN SYNDROME; COH1
        Gene map locus 8q22-q23

 216411 COCKAYNE SYNDROME, TYPE III

#216400 COCKAYNE SYNDROME, TYPE A; CSA
        Gene map locus 5q12

 216360 COACH SYNDROME

%216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA

 216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM

 216300 CLEFT PALATE, DEAFNESS, AND OLIGODONTIA

 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY

 215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME

 215800 CLEFT LARYNX, POSTERIOR
        STRIDOR, CONGENITAL, INCLUDED

 215720 CITRULLINE TRANSPORT DEFECT

#215700 CITRULLINEMIA, CLASSIC
        Gene map locus 9q34.1

#215600 CIRRHOSIS, FAMILIAL
        CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED
        Gene map locus 12q13, 12q13

 215550 CIRCUMVALLATE PLACENTA SYNDROME

%215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES

 215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION

 215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY

%215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD
        Gene map locus 17p

 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION

%215470 CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM

 215450 CHOREA, BENIGN FAMILIAL

%215400 CHORDOMA; CHDM
        Gene map locus 7q33

#215300 CHONDROSARCOMA
        Gene map locus 8q24.11-q24.13

 215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME

#215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED
        Gene map locus 6p21.3

#215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
        Gene map locus 1q42.1

 215105 CHONDRODYSPLASIA PUNCTATA SYNDROME

#215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
        Gene map locus 6q22-q24

 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS

#215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
        Gene map locus 3p22-p21.1

 215030 CHOLESTEROL PNEUMONIA

 214980 CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE

#214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4

%214900 CHOLESTASIS-LYMPHEDEMA SYNDROME
        Gene map locus 15q

#214800 CHARGE SYNDROME
        Gene map locus 8q12.1, 7q21.1

#214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
        Gene map locus 7q22-q31.1

#214500 CHEDIAK-HIGASHI SYNDROME; CHS
        Gene map locus 1q42.1-q42.2

#214450 GRISCELLI SYNDROME, TYPE 1; GS1
        Gene map locus 15q21

#214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A
        Gene map locus 8q13-q21.1

%214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS

 214350 CHANDS

%214300 KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE
        Gene map locus 5q11.2

 214290 CERVICAL VERTEBRAE, AGENESIS OF

 214200 CEROID STORAGE DISEASE

#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
        Gene map locus 10q11

%214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES

#214100 ZELLWEGER SYNDROME; ZS
        Gene map locus 1p36.2, 1q22, 12p13.3, 7q21-q22, 6q23-q24, 2p15, Chr.1, 22q11.21

%213980 CEREBROFACIOTHORACIC DYSPLASIA

 213950 CEREBROCORTICAL DEGENERATION OF INFANCY

 213900 CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE

 213820 CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS

#213700 CEREBROTENDINOUS XANTHOMATOSIS
        Gene map locus 2q33-qter

%213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1
        Gene map locus 14q

 213500 CEREBRAL ANGIOPATHY, DYSPHORIC

 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5

%213300 JOUBERT SYNDROME 1; JBTS1
        Gene map locus 9q34.3

%213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2
        Gene map locus 9q34-qter

%213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2

 213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME

 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS

%213000 CEREBELLAR HYPOPLASIA

 212900 CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

%212895 CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA

 212890 CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA

 212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS

%212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
        GORDON HOLMES SYNDROME, INCLUDED

 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA

 212800 CEPHALIN LIPIDOSIS

%212790 PREMATURE CENTROMERE DIVISION; PCD

%212780 CENANI SYNDACTYLISM

#212750 CELIAC DISEASE; CD
        CELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; CELIAC1, INCLUDED
        Gene map locus 6p21.3, 6p21.3

#212720 MARTSOLF SYNDROME
        Gene map locus 1q41

 212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME

#212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2
        Gene map locus 14q23

 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME
        CATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED

%212500 CATARACT, CONGENITAL OR JUVENILE
        CATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED

%212400 CATARACT AND CONGENITAL ICHTHYOSIS

 212360 CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS

%212350 CATARACT AND CARDIOMYOPATHY

%212200 CARNOSINEMIA
        Gene map locus 18q21.3

%212160 CARNITINE DEFICIENCY, MYOPATHIC

#212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
        Gene map locus 5q31.1

 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE

%212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH

 212120 CARDIOGENITAL SYNDROME

 212112 CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM

 212110 CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE

 212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS

 212093 CARDIAC VALVULAR DEFECT, DEVELOPMENTAL

 212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA

 212080 CARDIAC LIPIDOSIS, FAMILIAL

#212070 CARBOXYPEPTIDASE N DEFICIENCY
        Gene map locus 10q24.2

 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx

#212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
        Gene map locus 14q21

#212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
        Gene map locus 16p13.3-p13.2

 212060 CARBIMAZOLE SENSITIVITY

%212050 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE

 211990 CAMPTOMELIC SYNDROME, LONG-LIMB TYPE

#211980 LUNG CANCER
        ALVEOLAR CELL CARCINOMA, INCLUDED
        Gene map locus 19q13.2, 17q21.1, 12p12.1, 11q22-q24, 11p15.5, 10q11, 10p11.2, 7q34, 7p12.3-p12.1, 6q25.2-q27, 3q26.3, 3p21.3, 3p22-p21.3, 2q33

 211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME

%211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES

 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA

 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II

 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1

#211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
        Gene map locus 13q12, 12p13.3, 2q24-q31

%211890 CAMPOMELIA, CUMMING TYPE

 211800 CALCIFICATION OF JOINTS AND ARTERIES

 211770 CAHMR SYNDROME

#211750 C SYNDROME
        Gene map locus 3q13.13

#211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1
        Gene map locus 18q21

%211530 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS

%211500 BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD

 211480 BUERGER DISEASE

 211450 BRONCHOMALACIA

%211420 BREAST CANCER, DUCTAL, 2; BRCD2
        Gene map locus 1p36

%211410 BREAST CANCER, DUCTAL, 1; BRCD1
        Gene map locus Chr.13

 211400 BRONCHIECTASIS

%211390 SABINAS BRITTLE HAIR SYNDROME

 211380 BRACHIOSKELETOGENITAL SYNDROME

 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM

 211369 BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY

 211355 BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC

%211350 KYPHOMELIC DYSPLASIA

 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS

%211180 BOWEN-CONRADI SYNDROME; BWCNS
        Gene map locus 12p13.3

%211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME

 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE

 211000 BLUE DIAPER SYNDROME

#210900 BLOOM SYNDROME; BLM
        Gene map locus 15q26.1

#210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6
        Gene map locus 14q32

%210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE

 210740 BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY

%210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III

#210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

%210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
        Gene map locus 2q14.2-q14.3

 210700 BIRD-HEADED DWARFISM, MONTREAL TYPE

#210600 SECKEL SYNDROME 1
        Gene map locus 3q22-q24

 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY

 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA

 210450 BILE ACID, SYNTHETIC DEFECT OF

 210400 BIFID NOSE

#210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
        Gene map locus 4q35.1

 210350 BIEMOND SYNDROME II

#210250 SITOSTEROLEMIA
        Gene map locus 2p21, 2p21

#210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
        Gene map locus 5q12-q13

#210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
        Gene map locus 3q25-q27

%210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF

 210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION

%210000 BEHR SYNDROME

 209970 BEEMER LETHAL MALFORMATION SYNDROME

#209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL
        BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED
        Gene map locus 19p13.1, 6q23-q24, 5q31.1-q33.1, 2q32.2-q32.3, 21q22.1-q22.2

#209920 BARE LYMPHOCYTE SYNDROME, TYPE II
        BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED
        Gene map locus 19p12, 16p13, 13q14, 1q21.1-q21.3

#209900 BARDET-BIEDL SYNDROME; BBS
        BARDET-BIEDL SYNDROME 1, INCLUDED; BBS1, INCLUDED
        Gene map locus 20p12, 17q23, 16q21, 15q22.3-q23, 14q32.1, 12q21.3, 12q21.2, 11q13, 9q31-q34.1, 8q21.13-q22.1, 7p14, 4q27, 4q27, 3p12-q13, 2q31

 209885 BARBER-SAY SYNDROME

#209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF
        ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED
        Gene map locus 20q13.2-q13.3, 12q22-q23, 11p13, 10q11.2, 5p13.1-p12, 4p12

%209850 AUTISM
        AUTISM SPECTRUM DISORDER, INCLUDED
        Gene map locus 7q22, 6p21.3-p21.2, 2q32

 209800 AUSTRALIA ANTIGEN

 209770 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION

 209700 ATROPHODERMIA VERMICULATA

 209600 ATRIOVENTRICULAR DISSOCIATION

#209500 ATRICHIA WITH PAPULAR LESIONS; APL
        Gene map locus 8p21.2

#209300 ATRANSFERRINEMIA
        Gene map locus 3q21

%209100 ATONIC-ASTATIC SYNDROME OF FOERSTER

 209050 ATHROMBIA, ESSENTIAL

 209010 ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE

 209000 ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY

#208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
        ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
        Gene map locus 9p13.3

 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH

#208900 ATAXIA-TELANGIECTASIA; AT
        AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED
        Gene map locus 11q22.3

 208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME

 208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME

%208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY

 208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA

 208600 ASTHMA, SHORT STATURE, AND ELEVATED IgA

#208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE
        ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 17q21.3, 14q22

#208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD
        RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST, INCLUDED
        Gene map locus 3q22

%208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES
        POLYSPLENIA SYNDROME, INCLUDED

%208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1
        Gene map locus 15q13

 208300 ASCITES, CHYLOUS

#208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP
        Gene map locus 1q24-q25

#208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC
        Gene map locus 6q22-q23

%208200 ARTHROGRYPOSIS-LIKE DISORDER

 208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS

 208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE

#208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS
        Gene map locus 11p11.2-p11.1

%208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN
        Gene map locus 5q35

#208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
        Gene map locus 15q26.1

 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES

 208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES

%208060 ARTERIOSCLEROSIS, SEVERE JUVENILE

#208050 ARTERIAL TORTUOSITY SYNDROME; ATS
        Gene map locus 20q13.1

#208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI
        CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED
        Gene map locus 6q22-q23

%207950 CHIARI MALFORMATION TYPE II

#207900 ARGININOSUCCINIC ACIDURIA
        Gene map locus 7cen-q11.2

#207800 ARGININEMIA
        Gene map locus 6q23

 207790 ARACHNOID CYSTS, INTRACRANIAL

 207780 AREDYLD

 207770 APROSENCEPHALY SYNDROME

 207765 APPARENT MINERALOCORTICOID EXCESS, TYPE 2; AME2

#207750 APOLIPOPROTEIN C-II DEFICIENCY
        Gene map locus 19q13.2

 207740 APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY

 207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA

 207720 APNEA, CENTRAL SLEEP

 207620 APHALANGY WITH HEMIVERTEBRAE

 207600 TAKAYASU ARTERITIS

 207500 ANUS, IMPERFORATE

#207410 ANTLEY-BIXLER SYNDROME; ABS
        Gene map locus 10q26

 207300 ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO

 207000 ANOSMIA FOR ISOBUTYRIC ACID

%206920 MICROPHTHALMIA WITH LIMB ANOMALIES

#206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
        OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED
        Gene map locus 3q26.3-q27

#206800 ANONYCHIA CONGENITA
        Gene map locus 20p13

%206780 ANODONTIA OF PERMANENT DENTITION

 206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION

%206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY

 206600 ANHIDROSIS

%206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT

 206550 ANGIOLIPOMATOSIS, FAMILIAL

%206500 ANENCEPHALY

 206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM

 206300 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE

#206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
        Gene map locus 22q12-q13

#206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD
        Gene map locus 12q13

 206000 ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE

 205950 ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE

 205700 ANEMIA, AUTOIMMUNE HEMOLYTIC

#205400 TANGIER DISEASE; TGD
        Gene map locus 9q22-q31

 205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES

%205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA

#205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
        Gene map locus 2q33

#205000 AMYOTONIA CONGENITA

 204900 AMYLOIDOSIS, CUTANEOUS BULLOUS

#204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
        Gene map locus 1p32

 204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION

%204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF

 204750 AMINOADIPIC ACIDURIA

 204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS

#204700 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
        Gene map locus 19q13.4, 11q22.3-q23

 204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G

#204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C

#204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
        NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED; LINCL, INCLUDED
        Gene map locus 11p15.5

%204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

#204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
        Gene map locus 16p12.1

 204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS

#204100 LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2
        Gene map locus 1p31

#204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
        Gene map locus 17p13.1

#203800 ALSTROM SYNDROME; ALMS
        Gene map locus 2p13

#203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE
        Gene map locus 2q36-q37, 2q36-q37

 203760 ALPHA-2-DEFICIENT COLLAGEN DISEASE

#203750 ALPHA-METHYLACETOACETIC ACIDURIA
        Gene map locus 11q22.3-q23.1

#203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
        Gene map locus 15q25

#203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC
        Gene map locus 8p21.2

%203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1
        Gene map locus 3q26.3-q27.3

 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN

 203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME

#203500 ALKAPTONURIA
        Gene map locus 3q21-q23

#203450 ALEXANDER DISEASE
        Gene map locus 17q21, 11q13

#203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
        Gene map locus 8q21

 203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME

%203330 PSEUDOHYPOPARATHYROIDISM, TYPE II

#203300 HERMANSKY-PUDLAK SYNDROME; HPS
        Gene map locus 19q13, 11p15-p13, 10q24.32, 10q23.1, 6p22.3, 3q24, 22q11.2-q12.2

#203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
        Gene map locus 9p23

#203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
        ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED
        Gene map locus 16q24.3, 15q11.2-q12

#203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
        Gene map locus 11q14-q21

 203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS

 202900 ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS

#202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1
        Gene map locus 19p13.3, 1p22

 202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS

%202650 DYSGNATHIA COMPLEX

 202600 AGENESIS OF CEREBRAL WHITE MATTER

 202550 AGANGLIONOSIS, TOTAL INTESTINAL

#202400 AFIBRINOGENEMIA, CONGENITAL
        HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED
        Gene map locus 4q28, 4q28

#202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
        Gene map locus 12p13.3, 7q21-q22, 2p15, Chr.1, 22q11.21

 202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT

#202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC
        ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED
        Gene map locus 17p13.1, 11p15.5

#202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1
        Gene map locus 18p11.2

 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE

 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE

#202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
        17,20-@LYASE DEFICIENCY, ISOLATED, INCLUDED
        Gene map locus 10q24.3

#202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
        Gene map locus 8q21

#201750 POR DEFICIENCY
        Gene map locus 7q11.2

#201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA
        Gene map locus 15q23-q24, 8p11.2

%201550 ADDUCTED THUMBS SYNDROME

#201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
        Gene map locus 17p13

#201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
        Gene map locus 12q22-qter

#201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
        Gene map locus 2q34-q35

#201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
        Gene map locus 1p31

#201400 ACTH DEFICIENCY
        Gene map locus 1q23-q24, 8q13

 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE

#201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2
        Gene map locus 12p13.33

#201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
        Gene map locus 20q11.2

 201200 ACROGERIA, GOTTRON TYPE

 201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME

 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ

#201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ
        Gene map locus 8q24.3

 201050 ACROCRANIOFACIAL DYSOSTOSIS

 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV

#201000 CARPENTER SYNDROME
        Gene map locus 6p11

 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

#200990 ACROCALLOSAL SYNDROME; ACLS
        Gene map locus 7p13

 200980 ACRORENAL-MANDIBULAR SYNDROME

 200970 ACKERMAN SYNDROME

#200950 ACID PHOSPHATASE DEFICIENCY
        Gene map locus 11p12-p11

 200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY

 200720 ACHONDROGENESIS, TYPE IV

 200710 ACHONDROGENESIS, TYPE III

#200700 CHONDRODYSPLASIA, GREBE TYPE
        Gene map locus 20q11.2

#200610 ACHONDROGENESIS, TYPE II; ACG2
        Gene map locus 12q13.11-q13.2

%200600 ACHONDROGENESIS, TYPE IA; ACG1A

#200500 ACHEIROPODY
        Gene map locus 7q36

 200450 ACHALASIA-MICROCEPHALY SYNDROME

%200400 ACHALASIA, FAMILIAL ESOPHAGEAL

 200300 ACETOPHENETIDIN SENSITIVITY

 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT

#200150 CHOREOACANTHOCYTOSIS; CHAC
        Gene map locus 9q21

 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION

 200110 ABLEPHARON-MACROSTOMIA SYNDROME

#200100 ABETALIPOPROTEINEMIA; ABL
        Gene map locus 4q22-q24

%194470 ZINC, ELEVATED PLASMA
        HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED
        Gene map locus 4q11-q13

 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD

%194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS
        Gene map locus 16q23-q24

 194370 X-RAY SENSITIVITY; XRS
        Gene map locus 13q14

%194350 WT LIMB-BLOOD SYNDROME

 194320 WORONETS TRAIT

%194300 WOOLLY HAIR, AUTOSOMAL DOMINANT

#194200 WOLFF-PARKINSON-WHITE SYNDROME
        PREEXCITATION SYNDROME, INCLUDED
        Gene map locus 7q36

#194190 WOLF-HIRSCHHORN SYNDROME; WHS
        WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED; WHSCR, INCLUDED

 194100 WISDOM TEETH, ABSENCE OF

%194090 WILMS TUMOR 3; WT3
        Gene map locus 16q

#194080 DENYS-DRASH SYNDROME; DDS
        Gene map locus 11p13

#194072 WAGR SYNDROME
        WAGR SYNDROME WITH OBESITY, INCLUDED; WAGRO, INCLUDED
        Gene map locus 11p13

%194071 MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1; MTACR1
        Gene map locus 11p15.5

#194070 WILMS TUMOR 1; WT1
        Gene map locus 13q12.3, 11p13, Xq26

#194050 WILLIAMS-BEUREN SYNDROME; WBS
        HYPERCALCEMIA, INFANTILE, INCLUDED
        Gene map locus 7q11.23, 7q11.23

 194000 WIDOW'S PEAK

#193900 WHITE SPONGE NEVUS OF CANNON
        Gene map locus 17q21-q22, 12q13

#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
        Gene map locus 17p13.1

 193680 WHISPERING DYSPHONIA, HEREDITARY

#193670 WHIM SYNDROME
        Gene map locus 2q21

#193530 WEYERS ACROFACIAL DYSOSTOSIS
        CURRY-HALL SYNDROME, INCLUDED
        Gene map locus 4p16

#193520 WATSON SYNDROME
        Gene map locus 17q11.2

#193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A
        WS2
        Gene map locus 3p14.1-p12.3

#193500 WAARDENBURG SYNDROME, TYPE I; WS1
        Gene map locus 2q35

 193450 VULVOVAGINITIS, ALLERGIC SEMINAL

#193300 VON HIPPEL-LINDAU SYNDROME; VHL
        VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED
        Gene map locus 11q13, 3p26-p25

%193250 VOLVULUS OF MIDGUT

 193240 VOCAL CORD PARALYSIS AND PTOSIS

%193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI
        Gene map locus 11q13

#193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD
        Gene map locus 2q37

%193220 VITREORETINOCHOROIDOPATHY; VRCP

#193200 VITILIGO
        VTLG
        Gene map locus 6p21.3

#193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
        Gene map locus 12p13.3

%193090 TRANSCOBALAMIN I DEFICIENCY
        TRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED

 193070 VIRUS RD114 RNA COMPLEMENTARITY

 193050 VIBRATORY ANGIOEDEMA

%193007 VESTIBULOPATHY, FAMILIAL
        Gene map locus 6q

 193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE

%193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4
        Gene map locus 13q31-q22

%193000 VESICOURETERAL REFLUX 1; VUR1
        CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, INCLUDED; CAKUT, INCLUDED
        Gene map locus 1p13

#192950 VERTICAL TALUS, CONGENITAL; CVT
        Gene map locus 2q31-q32

%192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS

 192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS

 192700 VENULAR INSUFFICIENCY, SYSTEMIC

#192605 VENTRICULAR TACHYCARDIA, FAMILIAL
        Gene map locus 3p21

#192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
        CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED; CMH1, INCLUDED
        Gene map locus 14q12, 14q12, 3p21.3-p14.3, 3p25, 20q13.3

#192500 LONG QT SYNDROME 1; LQT1
        LONG QT SYNDROME 1/2, INCLUDED; LQT1/2, INCLUDED
        Gene map locus 11p15.5

 192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE

#192430 VELOCARDIOFACIAL SYNDROME
        Gene map locus 22q11.2

 192400 VEINS, PATTERN OF, ON ANTERIOR THORAX

 192350 VATER ASSOCIATION
        VACTERL ASSOCIATION, INCLUDED

#192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY
        Gene map locus 3p21.3-p21.2

 192310 VASCULITIS, LYMPHOCYTIC, NODULAR

 192300 VASCULAR HELIX OF UMBILICAL CORD

 192200 VARICOSE VEINS

 192100 UVULA, BIFID

%192070 UV DAMAGE, EXCISION REPAIR OF, UV-24
        Gene map locus Chr.2

 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS

 192000 UTERINE ANOMALIES

 191950 URTICARIA, FAMILIAL LOCALIZED HEAT

#191900 MUCKLE-WELLS SYNDROME
        Gene map locus 1q44

 191850 URTICARIA, AQUAGENIC

#191830 RENAL ADYSPLASIA
        UROGENITAL ADYSPLASIA, INCLUDED
        Gene map locus 10q11.2, 22q13.31

 191800 URINARY BLADDER, ATONY OF

 191700 URIC ACID UROLITHIASIS

 191650 URETEROCELE

 191600 URETER, CANCER OF

%191550 URETER, BIFID OR DOUBLE

 191540 URATE OXIDASE; UOX
        Gene map locus 1p22

%191530 URATE-BINDING GLOBULIN, DECREASE IN

%191520 UPINGTON DISEASE

%191500 UNDRITZ ANOMALY

 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY

%191480 UNCOMBABLE HAIR SYNDROME

%191440 ULNAR HYPOPLASIA

 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME

 191400 ULNA AND FIBULA, HYPOPLASIA OF

#191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO
        Gene map locus 7q22

 191270 TYROSINASE-LIKE; TYRL
        Gene map locus 11p11.2

 191250 TWINNING DUE TO SUPERFETATION

%191200 TUNE DEAFNESS

%191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3
        Gene map locus 11q13

 191150 TUFTSIN DEFICIENCY

#191100 TUBEROUS SCLEROSIS; TS
        TUBEROUS SCLEROSIS 1, INCLUDED
        Gene map locus 16p13.3, 12q14, 9q34

 191091 TUBEROUS SCLEROSIS 3; TSC3

 191090 TUBEROUS SCLEROSIS 4

 191000 TROCHLEA OF THE HUMERUS, APLASIA OF

 190800 TRISTICHIASIS

#190685 DOWN SYNDROME
        TRISOMY 21, INCLUDED
        Gene map locus Xp11.23, 21q22.3, 1q43

%190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY

 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA

%190600 TRIPHALANGEAL THUMB, NONOPPOSABLE

 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES

 190445 TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP

#190440 TRIGONOCEPHALY, NONSYNDROMIC

 190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II

 190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I

 190410 TRIGGER THUMB

 190400 TRIGEMINAL NEURALGIA

 190360 TRICHODYSPLASIA-XERODERMA

#190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
        Gene map locus 8q24.12

#190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
        Gene map locus 8q24.12

 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC

 190340 TRICHODISCOMAS, FAMILIAL MULTIPLE

 190330 TRICHOMEGALY

#190320 TRICHODENTOOSSEOUS SYNDROME
        Gene map locus 17q21.3-q22

%190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER

#190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
        Gene map locus 3q13.3

 190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS

%190100 GENIOSPASM 1; GSM1
        Gene map locus 9q13-q21

 189961 TRACHEOPATHIA OSTEOPLASTICA

 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

%189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1
        HYPERTENSION, PREGNANCY-INDUCED, INCLUDED
        Gene map locus 1q42.1, 7q36, 2p13

%189700 TORUS PALATINUS AND TORUS MANDIBULARIS

 189600 TORTICOLLIS

#189500 WITKOP SYNDROME
        Gene map locus 4p16.1

 189490 TOOTH MALFORMATION

 189300 TONGUE CURLING, FOLDING, OR ROLLING
        CLOVERLEAF TONGUE, INCLUDED

 189230 TOES, SPACE BETWEEN FIRST AND SECOND

 189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND

 189150 TOE, ROTATED FIFTH

 189100 TOE, MISSHAPEN

 189000 TOE, FIFTH, NUMBER OF PHALANGES IN

#188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO
        Gene map locus 20q13.2-q13.3, 19q13.2, 9q22.1, 5p15.3

%188800 TIBIAL TORSION, BILATERAL MEDIAL

%188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY

 188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY

 188700 TIBIA VARA

 188600 THYROXINE-BINDING GLOBULIN OF SERUM

#188580 THYROTOXIC PERIODIC PARALYSIS
        HASHITOXIC PERIODIC PARALYSIS, INCLUDED
        Gene map locus 1q32

#188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
        Gene map locus 3p24.3

 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT

#188550 THYROID CARCINOMA, PAPILLARY
        Gene map locus 17q23-q24, 14q, 10q21, 10q11.2, 1p13, 8p22-p21.3, 7q32-q34

 188470 THYROID CARCINOMA, FOLLICULAR; FTC
        Gene map locus 11p15.5, 10q23.31, 10q23, 1p13.2

 188455 THYROGLOSSAL DUCT CYST, FAMILIAL

#188400 DIGEORGE SYNDROME; DGS
        DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
        Gene map locus 22q11.2

 188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY

 188200 THUMBNAILS, ABSENT

 188150 THUMB DEFORMITY AND ALOPECIA

 188100 THUMB DEFORMITY

#188055 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR

#188050 THROMBOPHILIA
        VENOUS THROMBOEMBOLISM, INCLUDED
        Gene map locus 10q25-q26

 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP

#188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT
        Gene map locus 11q23

 188020 THROMBOCYTOPENIA, CYCLIC

#188000 THROMBOCYTOPENIA 2; THC2
        Gene map locus 10p12.1

#187950 THROMBOCYTHEMIA, ESSENTIAL
        Gene map locus 9p24, 1p34, 3q26.3-q27

 187940 THROMBOCYTE B; THB

%187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY

 187800 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT

 187770 THORACOPELVIC DYSOSTOSIS

 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD

 187750 THORACIC DYSOSTOSIS, ISOLATED

%187650 THEOPHYLLINE BIOTRANSFORMATION

#187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2

#187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1
        Gene map locus 4p16.3

 187550 THALASSEMIA, BETA+, SILENT ALLELE

 187510 TETRAMELIC MONODACTYLY

 187501 TETRALOGY OF FALLOT AND GLAUCOMA

#187500 TETRALOGY OF FALLOT
        Gene map locus 20p12, 19p12, 8q23, 5q34

 187400 TESTICULAR TORSION

 187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF

%187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10

 187360 TEMPORAL ARTERITIS

 187350 TELECANTHUS

 187340 TEMPERATURE-SENSITIVE LETHAL MUTATION

%187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; TS546
        Gene map locus Chr.6

%187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; TS13
        Gene map locus Chr.4

%187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12
        Gene map locus Chr.14

#187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
        Gene map locus 9q34.1

%187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; H142T
        Gene map locus Chr.9

%187280 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51; BN51T
        Gene map locus 8q21

%187260 TELANGIECTASIA, HEREDITARY BENIGN

 187100 TEETH, SUPERNUMERARY

 187050 TEETH PRESENT AT BIRTH

 187030 T-COMPLEX LOCUS TCP10B; TCP10B

%187000 TEETH, ODD SHAPES OF
        LOBODONTIA, INCLUDED

 186950 T-CELL SUBGROUPS, NON-HLA-LINKED

%186890 TEAR PROTEIN, ANODAL

%186850 TARSAL FUSION

 186750 TALONAVICULAR COALITION

%186700 SYRINGOMYELIA, ISOLATED

 186600 SYRINGOMAS, MULTIPLE

#186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
        Gene map locus 16q12

 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM

#186570 TARSAL-CARPAL COALITION SYNDROME; TCC
        SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED
        Gene map locus 17q22

%186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY

#186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
        Gene map locus 17q22

%186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL

%186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME

#186300 SYNDACTYLY, TYPE V
        Gene map locus 2q31-q32

 186200 SYNDACTYLY, TYPE IV

#186100 SYNDACTYLY, TYPE III
        Gene map locus 6q21-q23.2

#186000 SYNPOLYDACTYLY 1; SPD1
        SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED
        Gene map locus 2q31-q32

%185900 SYNDACTYLY, TYPE I
        Gene map locus 2q34-q36

#185800 SYMPHALANGISM, PROXIMAL; SYM1
        Gene map locus 20q11.2, 17q22

 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET

%185700 SYMPHALANGISM, DISTAL

 185650 SYMPHALANGISM, C. S. LEWIS TYPE

 185610 SURFACE POLYPEPTIDES, ANONYMOUS

 185600 SYMPHALANGISM OF TOES

 185540 SURFACE ANTIGEN, GLYCOPROTEIN 75

#185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS
        Gene map locus 7q11.2

 185480 SUPRABULBAR PARESIS, CONGENITAL

 185460 SULFHEMOGLOBINEMIA, CONGENITAL

 185450 SUBLUXATION OF LENSES, LATE

 185400 SUBGLOTTIC BAR

 185300 STURGE-WEBER SYNDROME

%185200 STRIAE DISTENSAE, FAMILIAL

 185120 STRATTON-PARKER SYNDROME

%185100 STRABISMUS, SUSCEPTIBILITY TO
        STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED
        Gene map locus 7p22.1

 185070 STORMORKEN SYNDROME

 185069 STORM SYNDROME

%185050 STORAGE POOL PLATELET DISEASE

 185020 PSEUDOHYPERKALEMIA CARDIFF

%185010 STOMATOCYTOSIS II

%185000 STOMATOCYTOSIS I
        Gene map locus 9q34.1

%184900 STIFF SKIN SYNDROME

%184850 STIFF-PERSON SYNDROME; SPS
        PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED; PER, INCLUDED

#184840 STICKLER SYNDROME, TYPE III; STL3
        Gene map locus 6p21.3

 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF

 184705 STEINFELD SYNDROME

%184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1
        Gene map locus 5q11.2

 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH

#184500 STEATOCYSTOMA MULTIPLEX
        Gene map locus 17q12-q21

#184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
        Gene map locus 17q22

%184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1
        Gene map locus 18p11.3-p11.2

%184400 SPRENGEL DEFORMITY

 184300 SPONDYLOSIS, CERVICAL

 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA

%184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE

 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE

%184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

#184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
        Gene map locus 12q13.11-q13.2

 184200 SPONDYLOLISTHESIS

%184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT

 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS

#183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC
        Gene map locus 12q13.11-q13.2

 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY

 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS

%183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
        Gene map locus 9q31-q34

 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS

 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS

 183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS

%183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
        Gene map locus 7q21.2-q21.3, 2q31

 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA

 183400 SPLIT LOWER LIP

 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T-HELPER CELLS

 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA

 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS

#183090 SPINOCEREBELLAR ATAXIA 2; SCA2
        Gene map locus 12q24

#183086 SPINOCEREBELLAR ATAXIA 6; SCA6
        Gene map locus 19p13

%183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY

 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL

%183000 SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS

 182990 SPINAL INTRADURAL ARACHNOID CYSTS

#182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT
        SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED
        Gene map locus 20q13.3

%182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE

%182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1

%182950 SPINAL ARACHNOIDITIS

#182940 NEURAL TUBE DEFECTS
        SPINA BIFIDA, INCLUDED
        Gene map locus 17q11.2-q12, 1p13, 6q27

#182920 MYOPATHY, SPHEROID BODY
        Gene map locus 5q31

 182882 SPERM PROTAMINE P4; PRM4

 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE

 182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA

 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY

 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA

 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS

 182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY

 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM

#182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
        Gene map locus 2p22-p21

#182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A
        Gene map locus 14q11-q21

%182410 SNEDDON SYNDROME

 182400 SOMATOMEDIN, EMBRYONIC

#182290 SMITH-MAGENIS SYNDROME; SMS
        SMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED
        Gene map locus 17p11.2

%182280 SMALL CELL CANCER OF THE LUNG
        Gene map locus 3p23-p21

 182270 SMELL KETONE COMPOUNDS, ABILITY TO

 182269 SMALL PROLINE-RICH PROTEIN 2C; SPRR2C
        Gene map locus 1q21-q22

 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES

 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION

%182250 SINGLETON-MERTEN SYNDROME

#182230 SEPTOOPTIC DYSPLASIA
        PITUITARY HORMONE DEFICIENCY, COMBINED, HESX1-RELATED; INCLUDED; CPHD, INCLUDED
        Gene map locus 3p21.2-p21.1

 182220 SISTER CHROMATID EXCHANGE, FREQUENCY OF

#182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
        Gene map locus 15q21.1

 182210 SHPRINTZEN OMPHALOCELE SYNDROME

 182200 SELLA TURCICA, BRIDGED

 182190 SINUS NODE DISEASE AND MYOPIA

 182170 SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM

 182150 SIMOSA CRANIOFACIAL SYNDROME

 182000 KERATOSIS, SEBORRHEIC

%181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO,; IS1
        Gene map locus 19p13.3

%181750 SCLERODERMA, FAMILIAL PROGRESSIVE
        INCREASED CHROMOSOMAL BREAKAGE RATE OF SCLERODERMA, INCLUDED; CBRS, INCLUDED

 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT

%181600 SCLEROTYLOSIS
        Gene map locus 4q23

%181515 SCHOLTE SYNDROME

#181510 SCHIZOPHRENIA 1; SCZD1
        Gene map locus 5q33.3

#181500 SCHIZOPHRENIA; SCZD
        Gene map locus 1q42.1, 1q42.1, 1q32.1, 18p, 15q15, 1p36.2, 14q32.3, 13q34, 13q32, 13q14-q21, 12q24, 11q14-q21, 10q22.3, 8p21, 6p22.3, 6p23, 3q13.3, 3p25, 22q12.3, 22q12.3, 22q12.3, 22q11.2, 22q11

%181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO
        Gene map locus 5q31-q33

#181450 ULNAR-MAMMARY SYNDROME; UMS
        ULNAR-MAMMARY SYNDROME OF PALLISTER, INCLUDED
        Gene map locus 12q24.1

%181440 SCHEUERMANN DISEASE

#181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
        Gene map locus 14q12

%181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE
        Gene map locus 12q24.1-q24.31

#181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE
        Gene map locus 2q35

#181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
        Gene map locus 1q21.2

 181300 SCAPULA, CONTOUR OF VERTEBRAL BORDER OF

 181270 SCALP-EAR-NIPPLE SYNDROME

 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY

 181200 SC(1) TRAIT OF SALIVA

 181180 SAY SYNDROME

#181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC
        Gene map locus 8q12

 181010 SALIVARY DUCT CALCULI

#181000 SARCOIDOSIS
        Gene map locus 6p21.3, 6p21.3

%180950 SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE

 180940 SALIVARY PROTEIN II; SAL-II

 180930 SALIVARY PROTEIN I; SAL-I

#180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG
        PAROTID APLASIA OR HYPOPLASIA, INCLUDED
        Gene map locus 5p13-p12

%180900 RUTHERFURD SYNDROME

 180870 RUVALCABA SYNDROME

%180860 SILVER-RUSSELL SYNDROME; SRS
        Gene map locus 11p15.5, 7p11.2

#180849 RUBINSTEIN-TAYBI SYNDROME; RSTS
        Gene map locus 16p13.3, 22q13

#180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
        Gene map locus 17p11.2, 1q22

#180750 ROBINOW-SORAUF SYNDROME

 180730 ROMBO SYNDROME

%180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT

%180600 RINGED HAIR

#180550 RING DERMOID OF CORNEA; RDC
        Gene map locus 4q25-q26

#180500 RIEGER SYNDROME, TYPE 1; RIEG1
        Gene map locus 4q25-q26

 180360 RHINY

 180350 RHEUMATOID NODULOSIS

 180330 RHEUMATOID FACTOR IgM IDIOTYPES

#180300 RHEUMATOID ARTHRITIS; RA
        Gene map locus 1p36.13, 1q31-q32, 16p13, 1p13, 6q23, 6p21.3, 6p21.3, 5q31, 2q32.2-q32.3, 21q22.3

%180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2

 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT

 180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT

#180105 RETINITIS PIGMENTOSA 10; RP10
        Gene map locus 7q31.3-q32

#180104 RETINITIS PIGMENTOSA 9; RP9
        Gene map locus 7p14.2

#180100 RETINITIS PIGMENTOSA 1; RP1
        Gene map locus 8q11-q13

 180080 RETINAL VENOUS BEADING

 180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT

%180050 RETINAL DETACHMENT

%180020 RETINAL CONE DYSTROPHY 1; RCD1
        Gene map locus 6q25-q26

%179900 RETINAL APLASIA

#179850 DOWLING-DEGOS DISEASE; DDD
        Gene map locus 12q13

 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM

 179830 RENAL TUBULAR ACIDOSIS, PROXIMAL

#179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
        Gene map locus 17q21-q22

 179770 RENAL CELL CARCINOMA 3; RCC3

 179760 RENAL CELL CARCINOMA 2; RCC2

%179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS

%179650 RED CELL PERMEABILITY DEFECT

#179620 RAPH BLOOD GROUP SYSTEM
        Gene map locus 11p15.5

#179613 RECOMBINANT CHROMOSOME 8 SYNDROME

%179600 RAYNAUD DISEASE

 179500 RAINDROP HYPOPIGMENTATION

 179450 RAGWEED SENSITIVITY
        Gene map locus 6p21.3

 179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE

 179300 RADIOULNAR SYNOSTOSIS

 179280 RADIAL-RENAL SYNDROME

 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA

 179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA

%179200 RADIAL HEADS, POSTERIOR DISLOCATION OF

#179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1
        Gene map locus 12q24.2-q24.31

 179000 PURPURA SIMPLEX

 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP

 178900 PUPILLARY MEMBRANE, PERSISTENCE OF

 178800 PUPIL, EGG-SHAPED

 178651 PULMONIC STENOSIS AND DEAFNESS

 178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES

 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL

#178600 PULMONARY HYPERTENSION, PRIMARY; PPH1
        PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED
        Gene map locus 2q33

 178550 PULMONARY HEMOSIDEROSIS

#178500 PULMONARY FIBROSIS, IDIOPATHIC
        INTERSTITIAL PNEUMONITIS, USUAL, INCLUDED; UIP, INCLUDED
        Gene map locus 10q22.2-q23.1, 5p15.33, 4q31.1

 178400 PULMONARY EDEMA OF MOUNTAINEERS

 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT

%178350 PUBIC BONE DYSPLASIA

 178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS

%178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
        Gene map locus 8q21.12, 1p34.1-p32

%178200 PTERYGIUM, ANTECUBITAL

%178110 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT

 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA

 177990 PTERYGIUM COLLI, ISOLATED

#177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES

#177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1
        Gene map locus 19p13, 17q25, 1q21, 1p, 6p21.3, 5q31.1-q33.1, 4q31-q34, 4q, 3q21

#177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
        PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
        Gene map locus 16p13.1

#177820 PSEUDO-VON WILLEBRAND DISEASE
        Gene map locus 17pter-p12

 177800 PSEUDOPAPILLEDEMA

%177750 PSEUDOMONILETHRIX

#177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
        Gene map locus 4q31.1

%177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
        PSEUDOHYPERKALEMIA CHISWICK, INCLUDED
        Gene map locus 16q23-q24

 177700 PSEUDOGLAUCOMA

#177650 EXFOLIATION SYNDROME; XFS
        Gene map locus 15q22

 177600 PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF

 177350 PSEUDOATROPHODERMA COLLI

 177300 PSEUDOARTHROGRYPOSIS

#177200 LIDDLE SYNDROME
        Gene map locus 16p13-p12, 16p13-p12

#177170 PSEUDOACHONDROPLASIA; PSACH
        Gene map locus 19p13.1

 177100 PRURITUS, HEREDITARY LOCALIZED

%177050 PROTRUSIO ACETABULI

%176920 PROTEUS SYNDROME
        ELATTOPROTEUS SYNDROME, INCLUDED
        Gene map locus 10q23.31

 176900 PROTEOLYTIC CAPACITY OF PLASMA

#176807 PROSTATE CANCER
        Gene map locus 20q13, 19q, 17p11, 16q22.3-q23.1, 1q25, 13q12.3, 11p11.2, 10q25, 10q23.31, 10p15, 8p22, 7q11.23, 7p11-q21, 7p22, 3p26, Xq11-q12, 22q12.3, 22q12.1, 1q42.2-q43

 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF

%176780 PELVIC ORGAN PROLAPSE
        Gene map locus 1q31

 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA
        Gene map locus Chr.10

%176700 PROGNATHISM, MANDIBULAR

 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI

 176680 PRIMED LYMPHOCYTE TEST 1; PLT1
        Gene map locus 6p21.3

#176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
        MYOPATHY, EARLY-ONSET, WITH PROGEROID FEATURES, INCLUDED
        Gene map locus 1q21.2

 176630 PRIMARY RELEASE DISORDER OF PLATELETS

 176620 PRIAPISM, FAMILIAL IDIOPATHIC

 176600 PRESENILE DEMENTIA, KRAEPELIN TYPE

#176500 DEMENTIA, FAMILIAL BRITISH; FBD
        Gene map locus 13q14

#176450 CURRARINO SYNDROME
        SACRAL AGENESIS SYNDROME, INCLUDED
        Gene map locus 7q36

#176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS

#176410 PRECOCIOUS PUBERTY, MALE-LIMITED
        TESTIS-STIMULATING FACTOR, INCLUDED
        Gene map locus 2p21

#176400 PRECOCIOUS PUBERTY, CENTRAL
        Gene map locus 19p13.3

#176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
        Gene map locus 7p15-p14.2

#176270 PRADER-WILLI SYNDROME; PWS
        PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED
        Gene map locus 15q12, 15q11-q13

 176250 POSTERIOR COLUMN ATAXIA

 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC

#176200 PORPHYRIA VARIEGATA
        Gene map locus 1q22, 6p21.3

 176090 PORPHYRIA CUTANEA TARDA, TYPE I

%176010 PORPHYRIA, CHESTER TYPE; PORC
        Gene map locus 11q23.1

#176000 PORPHYRIA, ACUTE INTERMITTENT
        PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED
        Gene map locus 11q23.3

#175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1
        Gene map locus 12q24.1

%175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP

 175850 POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATA

%175800 POROKERATOSIS OF MIBELLI

#175780 PORENCEPHALY, FAMILIAL
        Gene map locus 13q34

 175750 POPLITEAL CYST

#175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS
        Gene map locus 7p13

%175690 POLYSYNDACTYLY, CROSSED

 175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL

 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI

 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES

 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES

 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE

#175200 PEUTZ-JEGHERS SYNDROME; PJS
        Gene map locus 19p13.3

#175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC
        GARDNER SYNDROME, INCLUDED; GS, INCLUDED
        Gene map locus 5q21-q22

#175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT
        Gene map locus 18q21.1

%175020 POLYPOSIS, GASTRIC

#174900 JUVENILE POLYPOSIS SYNDROME; JPS
        JUVENILE POLYPOSIS OF STOMACH, INCLUDED
        Gene map locus 18q21.1, 10q22.3

#174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD
        Gene map locus 18q22.1

#174800 MCCUNE-ALBRIGHT SYNDROME; MAS
        POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED
        Gene map locus 20q13.2

%174770 ACTINIC PRURIGO
        POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE

 174750 POLYKARYOCYTOSIS INDUCER; FUSE
        Gene map locus Chr.10

#174700 POLYDACTYLY, PREAXIAL IV
        CROSSED POLYDACTYLY, TYPE I, INCLUDED; CP1, INCLUDED
        Gene map locus 7p13

%174600 POLYDACTYLY, PREAXIAL III

#174500 POLYDACTYLY, PREAXIAL II; PPD2
        TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED
        Gene map locus 7q36

#174400 POLYDACTYLY, PREAXIAL I
        THENAR HYPOPLASIA, INCLUDED

 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA

%174300 OROFACIODIGITAL SYNDROME V; OFD5

#174200 POLYDACTYLY, POSTAXIAL, TYPE A1
        POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED; PAPB, INCLUDED
        Gene map locus 7p13

 174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES

#174050 POLYCYSTIC LIVER DISEASE; PCLD
        Gene map locus 19p13.2-p13.1, 6q21

%174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1
        Gene map locus 1q21

#173900 POLYCYSTIC KIDNEYS
        POLYCYSTIC KIDNEY DISEASE, ADULT, INCLUDED; APKD, INCLUDED
        Gene map locus 16p13.3-p13.12

%173800 POLAND SYNDROME
        PECTORALIS MUSCLE, ABSENCE OF, INCLUDED

 173700 POIKILODERMA, HEREDITARY SCLEROSING

#173650 KINDLER SYNDROME
        Gene map locus 20p13

#173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS
        Gene map locus 17p11.2

 173590 PLATELET SIGNAL PROCESSING DEFECT

 173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED

 173560 PLATELET MEMBRANE FLUIDITY; PMF

%173540 PLATELET GROUPS--Pl(E) SYSTEM

 173450 PLATELET FACTOR 3 DEFICIENCY

 173420 PLATELET DISORDER, UNDEFINED

 173400 PLATELET AGGREGATION, SPONTANEOUS

 173395 PLATELET ADENYLATE CYCLASE ACTIVITY

%173200 PITYRIASIS RUBRA PILARIS

#173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
        Gene map locus 17q22-q24

 173000 PILONIDAL SINUS

%172900 PIGMENTED PURPURIC ERUPTION

 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY

#172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA
        Gene map locus 1q31-q32.1

 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS

#172800 PIEBALD TRAIT; PBT
        Gene map locus 8q11

#172700 PICK DISEASE OF BRAIN
        Gene map locus 17q21.1, 14q24.3

 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION

 172290 PHOSPHOGLYCOPROTEIN 1; PGP1

%172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY

 172110 PHOSPHOGLUCOMUTASE 4

 171700 ALKALINE PHOSPHATASE, BLOOD GROUP-ASSOCIATED

 171660 PHOSPHATASE, ACID, OF TISSUES

 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA

 171450 PHLEBECTASIA OF LIPS

 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME

#171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
        THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
        Gene map locus 10q11.2

#171300 PHEOCHROMOCYTOMA
        Gene map locus 1p36.2, 11q23, 10q11.2, 5p13.1-p12, 3p26-p25, 1p36.1-p35

#171200 THIOUREA TASTING
        PHENYLTHIOCARBAMIDE TASTING, INCLUDED
        Gene map locus 7q35-q36

 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN

%171000 PEYRONIE DISEASE

 170990 PEROXIDASE, SALIVARY; SAPX

 170980 PERONEAL NERVE, ACCESSORY DEEP

 170900 PERNICIOUS ANEMIA

 170700 PERIPHERAL DYSOSTOSIS

#170650 PERIODONTITIS, AGGRESSIVE, 1
        Gene map locus 11q14.1-q14.3

 170600 NORMOKALEMIC PERIODIC PARALYSIS

#170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP
        NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED
        Gene map locus 17q23.1-q25.3

#170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
        Gene map locus 17q23.1-q25.3, 1q32, 11q13-q14

#170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
        Gene map locus 17q23.1-q24.2

 169610 PEMPHIGUS VULGARIS, FAMILIAL

#169600 BENIGN CHRONIC PEMPHIGUS; BCPM
        Gene map locus 3q21-q24

 169550 PELVIS-SHOULDER DYSPLASIA

%169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA

#169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT
        Gene map locus 5q23.3-q31.1

#169400 PELGER-HUET ANOMALY; PHA
        Gene map locus 1q42.1

 169300 PECTUS EXCAVATUM

 169200 PECHET FACTOR DEFICIENCY

 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME

#169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
        Gene map locus 6p21.1-cen

#169100 CHAR SYNDROME
        Gene map locus 6p12

%169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF

%168900 PATELLA, CHONDROMALACIA OF

 168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA

%168860 PATELLA APLASIA-HYPOPLASIA; PTLAH
        Gene map locus 17q21-q22

 168850 PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS

 168830 PASSOVOY FACTOR

 168800 PAROTIDOMEGALY, HEREDITARY BILATERAL

 168710 PAROTID PROLINE-RICH SALIVARY PROTEIN Pc
        Gene map locus 12p13.2

%168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION

#168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1
        ATYPICAL PARKINSON DISEASE, INCLUDED
        Gene map locus 4q21

#168600 PARKINSON DISEASE; PD
        Gene map locus 18p11.31-p11.2, 17q21.1, 11p15.5, 1p, 9q34, 8p22-p21.3, 6q27, 5q23.1-q23.3, 4q22, 4p14, 2q22-q23, 2p13, Xq21-q25

#168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD
        Gene map locus 5q34-q35

#168500 PARIETAL FORAMINA; PFM
        PARIETAL FORAMINA 1, INCLUDED; PFM1, INCLUDED
        Gene map locus 5q34-q35

 168400 PARASTREMMATIC DWARFISM

#168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
        PARALYSIS PERIODICA PARAMYOTONIA, INCLUDED
        Gene map locus 17q23.1-q25.3

 168200 PARAMOLAR TUBERCLE OF BOLK

 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT

#168000 PARAGANGLIOMAS 1; PGL1
        PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED
        Gene map locus 11q23

 167960 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2
        Gene map locus 12q13

 167959 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1
        Gene map locus 8q24

 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE

 167900 PAPILLOMATOSIS, FAMILIAL CUTANEOUS

%167870 PANIC DISORDER 1; PAND1
        PANIC DISORDER WITH BLADDER CONDITIONS, INCLUDED
        Gene map locus 13q22-q32, 22q11.2

 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE

#167800 PANCREATITIS, HEREDITARY; PCTT
        PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 1p36.21, 7q35, 5q32

 167755 PANCREAS, DORSAL, AGENESIS OF

 167750 PANCREAS, ANNULAR

%167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME

 167700 PALMOMENTAL REFLEX

 167600 PALMARIS LONGUS MUSCLE, ABSENCE OF

%167500 PALATOPHARYNGEAL INCOMPETENCE

#167400 PAROXYSMAL EXTREME PAIN DISORDER
        Gene map locus 2q24

#167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD
        Gene map locus 9p13-p12

 167300 PAGET DISEASE, EXTRAMAMMARY

 167250 PAGET DISEASE OF BONE 1; PDB1
        Gene map locus 6p21.3

 167220 PACMAN DYSPLASIA

#167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2
        Gene map locus 17q12-q21, 12q13

#167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1
        PACHYONYCHIA CONGENITA TARDA, TYPE 1
        Gene map locus 17q12-q21, 12q13

%167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT

%167030 NEPHROLITHIASIS, CALCIUM OXALATE
        UROLITHIASIS, CALCIUM OXALATE, INCLUDED

%167000 SUPPRESSOR OF TUMORIGENICITY 8; ST8
        OVARIAN CANCER, FAMILIAL, INCLUDED
        Gene map locus 6q26-q27

 166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION

 166970 OVARIAN FIBROMATA

 166950 TERATOMA, OVARIAN

 166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS

 166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC

%166800 OTOSCLEROSIS; OTSC1
        Gene map locus 15q26.1-qter

#166780 OTOFACIOCERVICAL SYNDROME
        Gene map locus 8q13.3

%166760 OTITIS MEDIA, SUSCEPTIBILITY TO
        Gene map locus 10q26.3

%166750 OTODENTAL DYSPLASIA

 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES

#166710 OSTEOPOROSIS
        FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 20p12.3, 17q21.31-q22, 12q12-q14, 11q13.4, 11p12, 7q22.1, 7q21.3, 7p21, 5q31.1

 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS

#166700 BUSCHKE-OLLENDORFF SYNDROME
        OSTEOPOIKILOSIS, ISOLATED, INCLUDED
        Gene map locus 12q14

#166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
        Gene map locus 16p13

%166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

 166450 OSTEOMESOPYKNOSIS

 166400 OSTEOMAS OF MANDIBLE

#166350 OSSEOUS HETEROPLASIA, PROGRESSIVE
        Gene map locus 20q13.2

%166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY

#166260 GNATHODIAPHYSEAL DYSPLASIA; GDD
        Gene map locus 11p14.3

#166250 OSTEOGLOPHONIC DYSPLASIA; OGD

 166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH

 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES

#166220 OSTEOGENESIS IMPERFECTA, TYPE IV
        Gene map locus 17q21.31-q22

#166210 OSTEOGENESIS IMPERFECTA, TYPE IIA
        Gene map locus 17q21.31-q22, 7q22.1

#166200 OSTEOGENESIS IMPERFECTA, TYPE I
        OSTEOPENIC NONFRACTURE SYNDROME, INCLUDED
        Gene map locus 17q21.31-q22, 7q22.1

#166000 ENCHONDROMATOSIS, MULTIPLE
        MAFFUCCI SYNDROME, INCLUDED
        Gene map locus 3p22-p21.1

%165800 OSTEOCHONDRITIS DISSECANS; OD

#165720 OSTEOARTHRITIS
        OSTEOARTHRITIS SUSCEPTIBILITY, FEMALE-SPECIFIC, INCLUDED; OASF, INCLUDED
        Gene map locus 12q13.11-q13.2, 11q, 9q21.3-q22, 2q31-q33

%165700 OSTEOARTHROPATHY OF FINGERS, FAMILIAL

 165680 OSSICULAR MALFORMATIONS, FAMILIAL

 165670 OSSIFIED EAR CARTILAGES

%165660 OSLAM SYNDROME

 165600 ORBITAL MARGIN, HYPOPLASIA OF

 165590 OROFACIODIGITAL SYNDROME X; OFD10

#165550 OPTIC NERVE HYPOPLASIA, BILATERAL
        OPTIC NERVE APLASIA, BILATERAL, INCLUDED
        Gene map locus 11p13

 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS

#165500 OPTIC ATROPHY 1; OPA1
        Gene map locus 3q28-q29

#165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT
        Gene map locus 19q13.2-q13.3

 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS

 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT

 165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY

 165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION

%165000 OPHTHALMOPLEGIA, FAMILIAL STATIC

#164970 ONCOGENE TRK

%164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA

 164891 ONCOGENE YUASA

 164800 ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA

 164750 OMPHALOCELE

%164745 OMODYSPLASIA

 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V

 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR

#164500 SPINOCEREBELLAR ATAXIA 7; SCA7
        Gene map locus 3p21.1-p12

#164400 SPINOCEREBELLAR ATAXIA 1; SCA1
        Gene map locus 6p23

 164330 ODONTOMA-DYSPHAGIA SYNDROME

 164310 OCULOPHARYNGODISTAL MYOPATHY

#164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
        Gene map locus 14q11.2-q13

#164280 FEINGOLD SYNDROME
        Gene map locus 2p24.1

#164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1
        Gene map locus 17q11.1-q12, 13q14-q21, 11p13

%164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS

%164210 HEMIFACIAL MICROSOMIA; HFM
        Gene map locus 14q32

#164200 OCULODENTODIGITAL DYSPLASIA; ODDD
        Gene map locus 6q21-q23.2

 164190 OCULAR DOMINANCE

 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP

 164180 OCULOCEREBROCUTANEOUS SYNDROME

%164170 NYSTAGMUS, VOLUNTARY

%164150 NYSTAGMUS, HEREDITARY VERTICAL

%164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2
        Gene map locus 6p12

 164000 NOSE, ANOMALOUS SHAPE OF

#163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME

#163950 NOONAN SYNDROME 1; NS1
        PTERYGIUM COLLI SYNDROME, INCLUDED
        Gene map locus 12q24.1

 163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES

#163800 SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2
        Gene map locus 15q24-q25

%163700 NIPPLES, SUPERNUMERARY

 163600 NIPPLES INVERTED

#163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2
        Gene map locus 4p16.3

%163400 NIEVERGELT SYNDROME

%163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME

%163100 NEVUS FLAMMEUS OF NAPE OF NECK

 163050 NEVUS ANEMICUS

%163000 NEVI FLAMMEI, FAMILIAL MULTIPLE
        Gene map locus 5q13-q22

#162900 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
        Gene map locus 4p16.3

 162830 NEUTROPHILIA, HEREDITARY

%162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR
        Gene map locus 7q22-qter

#162800 CYCLIC HEMATOPOIESIS
        Gene map locus 19p13.3

%162700 NEUTROPENIA, CHRONIC FAMILIAL

 162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE

#162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
        Gene map locus 17p11.2

#162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
        Gene map locus 9q22.1-q22.3

 162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE

%162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX

%162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

#162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B
        GANGLIONEUROMATOSIS OF THE ALIMENTARY TRACT, INCLUDED
        Gene map locus 10q11.2

 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4

 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A
        NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED

 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME

#162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL
        Gene map locus 17q11.2

#162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA
        Gene map locus 17q25

#162091 SCHWANNOMATOSIS
        Gene map locus 22q12.2

 162020 NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA

#162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ
        Gene map locus 16p12.3

%161950 IgA NEPHROPATHY 1; IGAN1
        Gene map locus 1q31-q42, 1q23-q25, 1q23-q25, 6q22-q23

%161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION
        Gene map locus 1q21

#161800 NEMALINE MYOPATHY 3; NEM3
        NEMALINE MYOPATHY 3 WITH INTRANUCLEAR RODS, INCLUDED
        Gene map locus 1q42.1, 1q22-q23, 9p13.2-p13.1

 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT

 161600 NAVICULAR BONE, ACCESSORY

#161550 NASOPHARYNGEAL CARCINOMA
        Gene map locus 17p13.1, 4p15.1-q12

 161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE

%161500 NASAL GROOVE, FAMILIAL TRANSVERSE

 161480 NASAL BONES, ABSENCE OF

 161470 NASAL ALAR COLLAPSE, BILATERAL

#161400 NARCOLEPSY 1; NRCLP1
        CATAPLEXY, INCLUDED
        Gene map locus 17q21, 4p13-q21, 21q22.3

#161200 NAIL-PATELLA SYNDROME; NPS
        Gene map locus 9q34.1

 161100 NAILBEDS, PIGMENTATION OF

 161080 NAIL LOW-SULFUR PROTEIN

 161070 NAIL HIGH-SULFUR PROTEIN

%161050 NAIL DYSPLASIA
        TWENTY-NAIL DYSTROPHY, INCLUDED

#161000 NAEGELI SYNDROME
        Gene map locus 17q12-q21

 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS

#160980 CARNEY COMPLEX, TYPE 1; CNC1
        Gene map locus 17q23-q24

#160900 DYSTROPHIA MYOTONICA 1
        Gene map locus 19q13.2-q13.3

#160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
        MYOTONIA LEVIOR, INCLUDED
        Gene map locus 7q35

%160750 MYOSITIS

%160700 MYOPIA 2; MYP2
        Gene map locus 18p11.31

 160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS

%160565 MYOPATHY, TUBULAR AGGREGATE

#160500 MYOPATHY, DISTAL 1; MPD1
        Gene map locus 14q12

%160300 MYOPATHY, DISTAL, WITH ONSET IN INFANCY

#160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
        Gene map locus 19p13.2, 12q21, 3p25.3

#160120 EPISODIC ATAXIA, TYPE 1; EA1
        MYOKYMIA 1, INCLUDED
        Gene map locus 12p13

%160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT

 159950 MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY

#159900 MYOCLONIC DYSTONIA
        DYSTONIA 11, MYOCLONIC, INCLUDED; DYT11, INCLUDED
        Gene map locus 11q23, 7q21

 159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS

 159700 MYOCLONUS AND ATAXIA

%159600 MYOCLONIC EPILEPSY, HARTUNG TYPE

%159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT
        Gene map locus 21q11.2

 159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM

 159550 MYELOCEREBELLAR DISORDER

 159500 MYELINATED OPTIC NERVE FIBERS

 159420 MYDRIASIS, CONGENITAL

 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS

 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE

 159300 MUSICAL PERFECT PITCH

 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE

%159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES

#159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
        Gene map locus 1q21.2

#159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
        Gene map locus 5q31

%158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B

%158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
        FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED
        Gene map locus 4q35

#158810 BETHLEM MYOPATHY
        Gene map locus 2q37, 21q22.3, 21q22.3

 158800 MUSCULAR DYSTROPHY, BARNES TYPE

 158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC

%158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT
        SMA, CHILDHOOD ISOLATED, INCLUDED

#158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
        Gene map locus 12q24

%158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A
        Gene map locus 2q14

%158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS

%158400 MUSCLE CRAMPS, FAMILIAL

#158350 COWDEN DISEASE; CD
        DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED
        Gene map locus 10q23.31

 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS

#158330 MULLERIAN APLASIA

#158320 MUIR-TORRE SYNDROME; MTS
        Gene map locus 3p21.3, 2p22-p21

%158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY

#158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME
        Gene map locus 17p13.1

 158280 MOTION SICKNESS

 158250 NONDISJUNCTION

#158170 MONOSOMY 9p SYNDROME

 158100 MONOPHALANGY OF GREAT TOE

 158050 MONKEY RED BLOOD CELL RECEPTOR; MRBC
        Gene map locus Chr.6

#158000 MONILETHRIX
        Gene map locus 12q13, 12q13, 12q13

 157980 MOMO SYNDROME

 157960 MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2
        Gene map locus 5p14

%157950 MOLAR I REINCLUSION

%157900 MOEBIUS SYNDROME; MBS
        Gene map locus 13q12.2-q13

 157860 MIXED LYMPHOCYTE CULTURE LOCUS II
        Gene map locus 6p21.3

 157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES

%157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP
        MITRAL VALVE PROLAPSE, MYXOMATOUS 1, INCLUDED; MMVP1, INCLUDED
        Gene map locus 16p12.1-p11.2

#157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1
        PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, INCLUDED
        Gene map locus 15q25, 4q35

 157600 MIRROR MOVEMENTS, HEREDITARY

%157400 MILIA, MULTIPLE ERUPTIVE

%157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
        Gene map locus 6q25.1, 6p21.3, 4q31.2, 4q24

%157200 MIDPHALANGEAL HAIR

#157170 HOLOPROSENCEPHALY 2; HPE2
        MIDLINE CLEFT SYNDROME, INCLUDED
        Gene map locus 2p21

 157160 MICROTUBULE-ASSOCIATED PROTEIN TAU-LIKE; MAPTL

 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA

 157150 MICROSPHEROPHAKIA WITH HERNIA

 157100 MICROPHTHALMIA, PIGMENTARY RETINOPATHY, CATARACT, AND GLAUCOMA

 156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR

%156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1
        Gene map locus 16p13.3

 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL

 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD

 156700 MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES

 156620 MICROCEPHALY-DEAFNESS SYNDROME

%156610 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS

%156600 MICROCORIA, CONGENITAL
        Gene map locus 13q31-q32

 156590 CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME
        MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED

%156580 MICROCEPHALY, AUTOSOMAL DOMINANT

#156575 MEVALONATE UPTAKE FACILITATOR; MEV

#156550 KNIEST DYSPLASIA
        Gene map locus 12q13.11-q13.2

 156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT

%156520 METATARSUS VARUS, TYPE I

 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY

#156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS

#156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
        Gene map locus 3p22-p21.1

 156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A

 156300 METACHROMASIA OF FIBROBLASTS

 156250 METACHONDROMATOSIS

%156240 MESOTHELIOMA, MALIGNANT
        Gene map locus 9p

%156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
        Gene map locus 2q24-q32

%156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE

 156220 MERALGIA PARAESTHETICA, FAMILIAL

#156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
        Gene map locus 2q23.1

 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA

#156000 MENIERE DISEASE
        Gene map locus 14q12-q13

%155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED

#155950 MELORHEOSTOSIS
        MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, INCLUDED
        Gene map locus 12q14

%155900 MELKERSSON-ROSENTHAL SYNDROME
        Gene map locus 9p11

%155800 MELANOSIS, UNIVERSAL

 155770 MELANOMA TUMOR ANTIGEN GP90

#155755 MELANOMA-ASTROCYTOMA SYNDROME
        Gene map locus 9p21

#155720 MELANOMA, UVEAL

 155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR

#155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
        Gene map locus 9p21

%155600 MELANOMA, CUTANEOUS MALIGNANT; CMM
        MELANOMA, CUTANEOUS MALIGNANT, 1, INCLUDED; CMM1, INCLUDED
        Gene map locus 16q24.3, 1p22, 1p36

 155500 MEGALODACTYLY

%155350 MEGALENCEPHALY

%155310 MEGADUODENUM AND/OR MEGACYSTIS
        PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL

#155255 MEDULLOBLASTOMA
        MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED
        Gene map locus 10q25.3-q26.1, 10q24-q25, 1p32

#155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
        Gene map locus 1q21-q22, 10q11.2

 155200 MEDIOSTERNAL DEPIGMENTATION LINE

 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS

 155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA

 155140 MECKEL DIVERTICULUM

#155100 MAY-HEGGLIN ANOMALY; MHA
        Gene map locus 22q11.2

%155050 MAXILLONASAL DYSPLASIA, BINDER TYPE

%155000 MAXILLOFACIAL DYSOSTOSIS

 154850 MASTICATORY MUSCLES, HYPERTROPHY OF

 154800 MAST CELL DISEASE
        URTICARIA PIGMENTOSA, INCLUDED

#154780 MARSHALL SYNDROME
        Gene map locus 1p21

 154750 MARFANOID HYPERMOBILITY SYNDROME

#154700 MARFAN SYNDROME; MFS
        Gene map locus 15q21.1

 154600 MARCUS GUNN PHENOMENON

%154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE

#154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF
        Gene map locus 5q32-q33.1

 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
        Gene map locus 9q32

 154370 MAMMASTATIN

 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH

%154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
        Gene map locus 7q21-q22

%154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2
        Gene map locus 17q11.2-q24

#154020 HYPOMAGNESEMIA 2, RENAL; HOMG2
        Gene map locus 11q23

 154000 MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED

 153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE

%153880 MACULAR EDEMA, CYSTOID
        Gene map locus 7p21-p15

%153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR
        Gene map locus 11q13

%153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1
        Gene map locus 8q24

#153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
        Gene map locus 1p21-p13

#153700 MACULAR DYSTROPHY, VITELLIFORM; VMD
        BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL, INCLUDED
        Gene map locus 11q13

#153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT

#153650 EPSTEIN SYNDROME
        ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, INCLUDED; APSM, INCLUDED
        Gene map locus 22q11.2

#153640 FECHTNER SYNDROME; FTNS
        Gene map locus 22q11.2

%153630 MACROGLOSSIA

%153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1
        Gene map locus 6p21.3

#153550 CHROMOSOME 5q DELETION SYNDROME
        MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED
        Gene map locus 5q31.1

#153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
        Gene map locus 10q23.31

 153470 MACROCEPHALY, BENIGN FAMILIAL

#153400 LYMPHEDEMA-DISTICHIASIS SYNDROME
        LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED
        Gene map locus 16q24.3

%153300 YELLOW NAIL SYNDROME

%153200 LYMPHEDEMA, HEREDITARY, II

#153100 LYMPHEDEMA, HEREDITARY, IA
        Gene map locus 5q35.3

%152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME

 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY

%152800 LYMPHANGIECTASIA, INTESTINAL

#152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
        EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED
        Gene map locus 1q41-q42, 16p12.3-q12.2, 16p13.3, 1q23, 1q23, 13q32, 1q22, 12q24, 11q14, 1p13, 6p21.3, 4q22-q24, 4p16-p15.2, 3p21.3-p21.2, 2q37.3, 2q32.2-q32.3

 152600 LUNULAE OF FINGERNAILS

 152550 LUMBAR STENOSIS, FAMILIAL

%152460 LOBULAR GLOMERULOPATHY, FAMILIAL

 152450 LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF

#152430 LONGEVITY
        Gene map locus 17p11.1, 16q21, 9q32-q33, 4q25, 1p35

 152420 LITHIUM TRANSPORT

 152400 LIPOPROTEIN, VARIANT OF BETA

 152300 LIPOPROTEIN TYPES--Lt SYSTEM

%152100 LIPOPROTEIN TYPES--Ld SYSTEM

%151900 LIPOMATOSIS, MULTIPLE
        Gene map locus 12q14.3

 151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL

 151700 LIPOMA OF THE CONJUNCTIVA

#151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
        Gene map locus 1q21.2, 3p25

 151640 LIP, HAMARTOMATOUS

%151630 LIP, MEDIAN NODULE OF UPPER

#151623 LI-FRAUMENI SYNDROME 1; LFS1
        LI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED
        Gene map locus 17p13.1, 9p21

 151620 LICHEN PLANUS, FAMILIAL

 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS

%151600 LEUKONYCHIA TOTALIS

 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA

 151550 LEUKONYCHIA MACULATA

 151500 LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF

#151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
        Gene map locus 13q14.3, 13q14.3, 12q24, 11q13

 151380 LEUKEMIA, ACUTE MONOCYTIC

#151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
        PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED

%151200 LERI PLEONOSTEOSIS

#151100 LEOPARD SYNDROME 1
        Gene map locus 12q24.1

 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

%151001 LENTIGINOSIS, INHERITED PATTERNED

 151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC

 150900 LENTIGINES

#150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN
        Gene map locus 1q42.1

 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS

#150699 LEIOMYOMA, UTERINE; UL

#150600 LEGG-CALVE-PERTHES DISEASE

 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET

 150550 LAZY LEUKOCYTE SYNDROME

 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT

%150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4
        SUCCEDANEOUS TEETH, AGENESIS OF, INCLUDED

 150360 LARYNGEAL WEB, FAMILIAL

 150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF

 150280 LARYNGOMALACIA

%150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP
        Gene map locus 6p21.3-p21.2

%150260 LARYNGEAL ABDUCTOR PARALYSIS

#150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1
        Gene map locus 3p14.3

#150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
        Gene map locus 8q24.11-q24.13

 150220 LACTOSE INTOLERANCE, CONGENITAL

 150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM

 150160 LACTATE DEHYDROGENASE-K; LDHK

#149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
        Gene map locus 5p13-p12, 4p16.3

 149700 LACRIMAL DUCT DEFECT

 149600 LABIA MINORA, INCOMPLETE ADHESION OF

 149500 KYRLE DISEASE

#149400 HYPEREKPLEXIA, HEREDITARY
        Gene map locus 14q24, 11p15.2-p15.1, 5q32, 4q31.3

%149300 KOILONYCHIA, HEREDITARY

#149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
        Gene map locus 13q11-q12

#149100 KNUCKLE PADS

%149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME
        Gene map locus 8q22.3

%148900 SEGMENTATION SYNDROME 1; SGM1
        Gene map locus 8q22.2

 148840 KLEINE-LEVIN HIBERNATION SYNDROME

#148820 WAARDENBURG SYNDROME, TYPE III; WS3
        Gene map locus 2q35

 148800 KLEEBLATTSCHAEDEL SYNDROME

%148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL

#148700 KERATOSIS PALMOPLANTARIS STRIATA I
        Gene map locus 18q12.1-q12.2, 12q13

%148600 KERATOSIS PALMOPLANTARIS PAPULOSA

 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY

%148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC
        Gene map locus 17q25

 148390 KERATOSIS, FAMILIAL ACTINIC

%148370 KERATOLYTIC WINTER ERYTHEMA
        Gene map locus 8p23-p22

 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY

#148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
        Gene map locus 13q11-q12

#148300 KERATOCONUS 1; KTCN1
        Gene map locus 20p11.2

#148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
        Gene map locus 13q11-q12

%148200 KERATITIS FUGAX HEREDITARIA

#148190 KERATITIS, HEREDITARY
        Gene map locus 11p13

 148100 KELOIDS

%148050 KBG SYNDROME

#148000 KAPOSI SARCOMA
        Gene map locus 7p21

#147950 KALLMANN SYNDROME 2; KAL2
        KALLMANN SYNDROME 2 WITH CLEFT LIP OR PALATE, INCLUDED
        Gene map locus 8p11.2-p11.1

%147920 KABUKI SYNDROME

%147900 JOINT LAXITY, FAMILIAL

#147891 SMALL PATELLA SYNDROME; SPS
        Gene map locus 17q21-q22

 147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF

%147800 AASE-SMITH SYNDROME I

#147791 JACOBSEN SYNDROME; JBS
        Gene map locus 11q23

%147770 JOHNSON NEUROECTODERMAL SYNDROME

#147750 IVIC SYNDROME
        Gene map locus 20q13.13-q13.2

 147710 INTUSSUSCEPTION

 147630 ISLET CELL ADENOMATOSIS

 147610 IRIS PIGMENT LAYER, CLEAVAGE OF

 147560 INTERFERON ANTIVIRAL DEPRESSOR

 147540 INSECT STINGS, HYPERSENSITIVITY TO

 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY

#147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP
        Gene map locus 7q21.1

%147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT

%147421 INCLUSION BODY MYOSITIS

 147400 INCISORS, SHOVEL-SHAPED

 147350 INCISORS, ROTATION OF UPPER CENTRAL

 147330 INCISORS, LOWER CENTRAL, ABSENCE OF

 147320 INSULIN RECEPTORS, FAMILIAL INCREASE IN

 147300 INCISORS, LONG UPPER CENTRAL

 147260 IMMUNOGLOBULIN SWITCH SEQUENCES
        IMMUNOGLOBULIN-INDEPENDENT SWITCH SEQUENCES, INCLUDED

 147251 INCISORS, FUSED MANDIBULAR

#147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
        SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED
        Gene map locus 7q36

%147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES
        Gene map locus 5q31.1

#147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
        Gene map locus 17q21, 4q21

#147050 IgE RESPONSIVENESS, ATOPIC; IGER
        IgE, ELEVATED LEVEL OF, INCLUDED
        Gene map locus 16p11, 16p12.1-p11.2, 1q23-q25, 13q14.1, 11q13, 6p21.2-p12, 5q33.2, 5q32

 146990 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2
        Gene map locus 15q11-q12

 146850 IMMUNE SUPPRESSION; IS
        Gene map locus 6p21.3

 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST

 146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE

#146800 ICHTHYOSIS, BULLOUS TYPE
        ICHTHYOSIS EXFOLIATIVA, INCLUDED
        Gene map locus 12q11-q13

 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT

 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME

#146700 ICHTHYOSIS VULGARIS
        Gene map locus 1q21

 146600 ICHTHYOSIS HYSTRIX GRAVIOR

#146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM
        Gene map locus 12q13

 146580 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR

%146550 HYPOTRICHOSIS, MARIE UNNA TYPE
        Gene map locus 8p21

#146520 HYPOTRICHOSIS SIMPLEX OF SCALP
        Gene map locus 6p21.3

#146510 PALLISTER-HALL SYNDROME; PHS
        Gene map locus 7p13

 146500 HYPOTENSION, ORTHOSTATIC

 146450 HYPOSPADIAS, AUTOSOMAL

 146400 HYPOPLASIA OF TEETH ROOTS

#146390 CHROMOSOME 18p DELETION SYNDROME

%146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD

#146300 HYPOPHOSPHATASIA, ADULT
        ODONTOHYPOPHOSPHATASIA, INCLUDED
        Gene map locus 1p36.1-p34

#146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
        Gene map locus 10p15

#146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
        HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED
        Gene map locus 11p15.3-p15.1, 6p24.2, 3q13.3-q21

 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES

#146110 HYPOGONADOTROPIC HYPOGONADISM
        Gene map locus 19p13.3, 9q34.3

#146000 HYPOCHONDROPLASIA; HCH
        Gene map locus 4p16.3

%145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2
        Gene map locus 19p13.3

#145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
        HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED
        Gene map locus 3q13.3-q21

#145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
        Gene map locus 19q13.1-q13.2, 17p11.2, 1q22, 10q21.1-q22.1

%145800 HYPERTROPHIA MUSCULORUM VERA

#145750 HYPERTRIGLYCERIDEMIA, FAMILIAL
        Gene map locus 15q11.2-q13.1, 11q23, 8q11-q13, 21q11.2

%145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1
        Gene map locus 8q22

%145700 HYPERTRICHOSIS UNIVERSALIS

%145680 HYPERTHYROXINEMIA, FAMILIAL

#145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH

#145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
        KING SYNDROME, INCLUDED
        Gene map locus 19q13.1

 145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA

#145500 HYPERTENSION, ESSENTIAL
        Gene map locus 20q13.11-q13.13, 20q11-q13, 1q42-q43, 17q21-q22, 17q, 17cen-q11.2, 1q23-q25, 15q, 1q23, 1q22-q25, 12p12.2-p12.1, 12p13, 7q36, 7q22.1, 5p13-q12, 4p16.3, 3q21-q25, 1p36.1, 2p25-p24

%145420 HYPERTELORISM, TEEBI TYPE

%145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS
        Gene map locus 22q11.2

%145400 HYPERTELORISM

 145350 HYPERTAURINURIC CARDIOMYOPATHY

 145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL

 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL

 145290 HYPERREFLEXIA; HRX
        Gene map locus 7q

 145270 HYPERPROGLUCAGONEMIA

#145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
        PSEUDOHYPOALDOSTERONISM, TYPE IIA, INCLUDED; PHA2A, INCLUDED
        Gene map locus 17q21-q22, 1q31-q42, 12p13

%145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
        Gene map locus 19pter-p13.1

 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS

%145100 HYPERPIGMENTATION OF EYELIDS

#145001 HYPERPARATHYROIDISM 2; HRPT2
        PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED
        Gene map locus 1q25-q31

#145000 HYPERPARATHYROIDISM 1; HRPT1
        PARATHYROID ADENOMA, FAMILIAL, INCLUDED
        Gene map locus 1q25-q31, 11q13

 144800 HYPEROSTOSIS FRONTALIS INTERNA

 144755 HYPEROSTOSIS CRANIALIS INTERNA

#144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
        Gene map locus 11q13.4

#144700 RENAL CELL CARCINOMA 1; RCC1
        HEREDITARY RENAL CANCER ASSOCIATED 1, INCLUDED; HRCA1, INCLUDED
        Gene map locus 17q12, 17p11.2, 12q24.2, 8q24.1, 3q21, 3p26-p25, 3p26.2

#144650 HYPERLIPOPROTEINEMIA, TYPE V
        Gene map locus 11q23

 144600 HYPERLIPOPROTEINEMIA, TYPE IV

#144400 HYPERLIPOPROTEINEMIA, TYPE II

 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS

#144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL
        Gene map locus 8p22

#144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
        UNILATERAL PALMOPLANTAR VERRUCOUS NEVUS, INCLUDED
        Gene map locus 17q12-q21, 17q12-q21

 144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME

%144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP

 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME
        IMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED; IGHR
        Gene map locus 14q32.33

 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS

 144100 HYPERHIDROSIS, GUSTATORY

 144050 HYPERHEPARINEMIA

 144020 HYPERCHOLESTEROLEMIA SUPPRESSOR

#144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
        Gene map locus 2p24

#143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
        Gene map locus 19p13.2, 1q21-q23, 9q22-q31, 8p21-p12, 7p15, 3p21.2-p14.1

 143880 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY

#143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2
        Gene map locus 1q24

 143860 HYPERCHLORHIDROSIS, ISOLATED

%143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE
        Gene map locus 18q

#143500 GILBERT SYNDROME
        Gene map locus 2q37

#143470 HYPERALPHALIPOPROTEINEMIA
        Gene map locus 16q21

#143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
        Gene map locus 17p11, 16p13, 11p15.5, 6q12, 5p13, 5p15.3, 4p16.1-p15.3

 143460 5-@HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR
        Gene map locus Chr.21

%143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD
        Gene map locus 6p

#143200 WAGNER SYNDROME 1; WGN1
        Gene map locus 5q12-q14

 143150 H-Y ANTIGEN RECEPTOR

 143095 HUMEROSPINAL DYSOSTOSIS

 143050 HUMERORADIAL SYNOSTOSIS

#143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1

%143000 HORNER SYNDROME, CONGENITAL

#142946 HOLOPROSENCEPHALY 4; HPE4
        Gene map locus 18p11.3

#142945 HOLOPROSENCEPHALY 3; HPE3
        Gene map locus 7q36

#142900 HOLT-ORAM SYNDROME; HOS
        Gene map locus 12q24.1

 142770 HLA MODIFIER

 142730 HISTIOCYTIC DERMATOARTHRITIS

%142700 ACETABULAR DYSPLASIA
        HIP, DISLOCATION OF, CONGENITAL, INCLUDED
        Gene map locus 13q22

%142690 ACNE INVERSA, FAMILIAL

#142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
        Gene map locus 12p13.2

%142669 HIP DYSPLASIA, BEUKES TYPE
        Gene map locus 4q35

 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS

 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME

#142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
        Gene map locus 20q13.2-q13.3, 10q11.2, 5p13.1-p12, 4p12, Xq28

 142550 HEXOKINASE OF SPERMATOZOA

 142500 HETEROCHROMIA IRIDIS

%142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2
        Gene map locus 6q22.3-q23.1

%142450 HERPESVIRUS SENSITIVITY; HV1S
        Gene map locus Chr.3

%142400 HERNIA, HIATUS

 142395 HEPATITIS B VACCINE, RESPONSE TO

 142350 HERNIA, DOUBLE INGUINAL

%142340 DIAPHRAGMATIC HERNIA, CONGENITAL
        DIAPHRAGMATIC HERNIA 1, INCLUDED; DIH1; INCLUDED
        Gene map locus 15q26.1

#142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5
        Gene map locus 7q36, 2p13

#142330 HEPATIC ADENOMAS, FAMILIAL
        Gene map locus 12q24.2

#142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN

#141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE
        Gene map locus 16pter-p13.3

#141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1
        Gene map locus 11p15.5, 11p15.5

 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES

#141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
        MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
        Gene map locus 19p13

 141405 HEMIFACIAL SPASM, FAMILIAL

%141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS

%141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS; HFH

%141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA

#141200 HEMATURIA, BENIGN FAMILIAL; BFH
        Gene map locus 2q36-q37

 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME

 140900 HEMANGIOMAS OF SMALL INTESTINE

 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE

#140700 HEINZ BODY ANEMIAS

 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS
        HEBERDEN NODES, INCLUDED
        Gene map locus 2q12-q13

 140500 HEART, MALFORMATION OF

 140450 HEART-HAND SYNDROME, SPANISH TYPE

%140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2

#140350 HAWKINSINURIA
        Gene map locus 12q24-qter

#140340 HAW RIVER SYNDROME

%140300 HASHIMOTO THYROIDITIS
        THYROID AUTOANTIBODIES, INCLUDED
        Gene map locus 8q23-q24, 2q33

#140000 HAND-FOOT-UTERUS SYNDROME
        Gene map locus 7p15-p14.2

 139800 HAND CLASPING PATTERN

 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES

 139630 HAIRY NOSE TIP

%139600 HAIRY ELBOWS

 139500 HAIRY EARS

 139450 HAIR, CURLY

 139400 HAIR WHORL
        DOUBLE HAIR WHORL, INCLUDED

#139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
        POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED; CIDP, INCLUDED

#139300 AROMATASE EXCESS SYNDROME; AEXS
        GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED
        Gene map locus 15q21.1

 139280 GUANYLATE KINASE 2; GUK2
        Gene map locus 1q32.1-q42

 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE

%139100 GRAYING OF HAIR, PRECOCIOUS

%139090 GRAY PLATELET SYNDROME; GPS

 139000 GRANULOSIS RUBRA NASI

 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE

 138972 CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG

 138930 GRANT SYNDROME

 138920 GRANDDAD SYNDROME

%138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1
        Gene map locus 4q25

%138800 GOITER, MULTINODULAR 1; MNG1
        Gene map locus 14q

 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES

 138770 GMS SYNDROME

 138710 GLYCOPROTEIN, RENAL

 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS

 138391 GLUTATHIONE S-TRANSFERASE 6

 138340 GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE

 138277 GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM

 138110 GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL
        Gene map locus Chr.17

 138070 GLUCOGLYCINURIA

 138060 GLUCOCORTICOID RECEPTOR-LIKE 1; GRLL1
        Gene map locus Chr.16

#138000 GLOMUVENOUS MALFORMATIONS; GVM
        Gene map locus 1p22-p21

%137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1

 137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES

#137920 RENAL CYSTS AND DIABETES SYNDROME
        Gene map locus 17q12

 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN

#137800 GLIOMA OF BRAIN, FAMILIAL
        GLIOBLASTOMA MULTIFORME, INCLUDED; GLM, INCLUDED; GBM, INCLUDED
        Gene map locus 17q21.1, 15q23-q26.3, 10q26, 10q25.3-q26.1, 10q24, 10q23.31, 10p15.1, 3p25

 137765 GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS

 137763 GLAUCOMA AND SLEEP APNEA

#137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG
        GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED
        Gene map locus 10p15-p14, 2cen-q13, 2p22-p21

#137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A
        GLAUCOMA 1, OPEN ANGLE, L, INCLUDED; GLC1L, INCLUDED
        Gene map locus 1q24.3-q25.2, 9q34.1, 2p22-p21

 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE

#137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2
        Gene map locus 4q25-q26

#137580 GILLES DE LA TOURETTE SYNDROME; GTS
        CHRONIC MOTOR TICS, INCLUDED
        Gene map locus 13q31, 11q23

%137575 GIGANTIFORM CEMENTOMA, FAMILIAL

 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA

 137550 GIANT PIGMENTED HAIRY NEVUS; GPHN

%137500 GIANT NEUTROPHIL LEUKOCYTES

#137440 GERSTMANN-STRAUSSLER DISEASE; GSD
        Gene map locus 20pter-p12

 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE
        GLOSSITIS, BENIGN MIGRATORY, INCLUDED

 137370 GENU VALGUM, ST. HELENA FAMILIAL

 137360 GENOCHONDROMATOSIS

#137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD

 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC

 137270 GASTROCUTANEOUS SYNDROME

 137245 GASTRIC LYMPHOMA, PRIMARY

 137220 GASTRIC JUICE PEPTIDES

#137215 GASTRIC CANCER
        Gene map locus 17q21.1, 16q22.1, 12p12.1, 10q26, 10p15, 5q31.1, 5q21-q22, 1p34.3-p32.1, 3q26.3, 2q33-q34, 2q14.2, 2q14

 137210 GASTRIC VOLVULUS, INTRATHORACIC

 137200 GAMSTORP-WOHLFART SYNDROME

 137130 GASTRIC SNEEZING

%137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1
        Gene map locus 6p21.3

 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF

 137040 GALLBLADDER, AGENESIS OF

 137030 GALACTOSE + ACTIVATOR; GLAT
        Gene map locus 2p22-p11

 137000 FUTCHER LINE

#136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
        Gene map locus 22q12.1-q13.2

#136880 FUNDUS ALBIPUNCTATUS
        RETINITIS PUNCTATA ALBESCENS, INCLUDED
        Gene map locus 15q26, 12q13-q14, 6p21.1-cen

 136830 FUCOSIDASE REGULATOR

#136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1
        Gene map locus 1p34.3-p32.3

 136770 FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 3, MOUSE, HOMOLOG OF; FIM3
        Gene map locus 3q27

 136760 FRONTONASAL DYSPLASIA

 136750 FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 1, MOUSE, HOMOLOG OF; FIM1
        Gene map locus 6p23-p22.3

#136680 FRASIER SYNDROME
        Gene map locus 11p13

#136670 FRAGILE SITE: ADDITIONAL TYPES

#136660 FRAGILE SITE 17p12

#136640 FRAGILE SITE 9q32

#136630 MENTAL RETARDATION, FRA12A TYPE
        Gene map locus 12q13.12

#136620 FRAGILE SITE 10q25

#136610 FRAGILE SITE 2q11

 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS

#136590 FRAGILE SITE 20p11

#136580 FRAGILE SITE 16q22; FRA16A

#136570 FRAGILE SITE 16p12

#136560 FRAGILE SITE 11q13

%136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1
        Gene map locus 6q14-q16.2

#136540 FRAGILE SITE 10q23

#136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
        FOVEAL HYPOPLASIA, ISOLATED, INCLUDED
        Gene map locus 11p13

%136500 FOCAL FACIAL DERMAL DYSPLASIA

 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL

 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA

%136300 FLYNN-AIRD SYNDROME

 136200 FLUSHING OF EARS AND SOMNOLENCE

 136150 FLOOD FACTOR DEFICIENCY

 136140 FLOATING-HARBOR SYNDROME

#136120 FISH-EYE DISEASE; FED
        Gene map locus 16q22.1

 136100 FINGERS, RELATIVE LENGTH OF

%136000 FINGERPRINTS, ABSENCE OF

 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE

%135900 COFFIN-SIRIS SYNDROME

 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF

%135750 LAURIN-SANDROW SYNDROME
        LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED
        Gene map locus 14q13, 14q13

#135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1
        Gene map locus 12q12

 135610 FIBRONECTIN-LIKE 2; FNL2
        Gene map locus 11q12.1-q13.5

 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES

%135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS

%135500 ZIMMERMANN-LABAND SYNDROME; ZLS
        Gene map locus 3p14.3

 135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS

#135300 FIBROMATOSIS, GINGIVAL, 1; GINGF
        Gene map locus 5q13-q22, 2p22-p21

#135290 DESMOID DISEASE, HEREDITARY
        DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED
        Gene map locus 5q21-q22

#135150 BIRT-HOGG-DUBE SYNDROME; BHD
        Gene map locus 17p11.2

#135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
        Gene map locus 2q23-q24

 134900 FIBRINOLYTIC DEFECT

 134780 FEMORAL-FACIAL SYNDROME; FFS

 134750 FELTY SYNDROME

 134720 FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF
        Gene map locus 4q21-q25

 134700 FAVISM, SUSCEPTIBILITY TO

#134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

%134600 FANCONI RENOTUBULAR SYNDROME
        LUDER-SHELDON SYNDROME, INCLUDED
        Gene map locus 15q15.3

 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF

 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF

 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8FD9

 134500 FACTOR VIII DEFICIENCY

 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF

 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS

 134300 FACIAL SPASM

%134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL

 134000 FACIAL HYPERTRICHOSIS

 133900 FACIAL ASYMMETRY

 133800 EYEBROW, WHORL IN

#133780 EXUDATIVE VITREORETINOPATHY 1; EVR1
        RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
        Gene map locus 11q14-q21

 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY

 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS

#133701 EXOSTOSES, MULTIPLE, TYPE II
        Gene map locus 11p12-p11

#133700 EXOSTOSES, MULTIPLE, TYPE I
        Gene map locus 8q24.11-q24.13

 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E

 133600 EXOSTOSES OF HEEL

#133540 COCKAYNE SYNDROME, TYPE B; CSB
        Gene map locus 10q11

%133500 EXCHONDROSIS OF PINNA, POSTERIOR

 133300 ESTERASE ES-2, REGULATOR FOR

 133270 ESTERASE C; ESC

 133260 ESTERASE B; ESB

 133240 ESOPHAGEAL RING, LOWER

#133239 ESOPHAGEAL CANCER
        ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED
        Gene map locus 16q23.3-q24.1, 13q12.11, 9q32, 8p22, 3p22-p21.3, 3p22

#133200 ERYTHROKERATODERMIA VARIABILIS; EKV
        ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, INCLUDED
        Gene map locus 1p35.1, 1p35.1

%133190 ERYTHROKERATODERMIA WITH ATAXIA

 133180 ERYTHROLEUKEMIA, FAMILIAL

#133100 ERYTHROCYTOSIS, FAMILIAL, 1
        Gene map locus 19p13.3-p13.2

#133020 ERYTHERMALGIA, PRIMARY
        Gene map locus 2q24

%133000 ERYTHEMA PALMARE HEREDITARIUM

 132990 ERYTHEMA NODOSUM, FAMILIAL

#132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4
        Gene map locus 16p13.13-p13.12

 132860 EPSTEIN-BARR VIRUS MODIFICATION SITE 1; EBVM1
        Gene map locus 11q23.1

 132850 EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1
        EPSTEIN-BARR VIRUS INTEGRATION SITE
        Gene map locus 1p35

%132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE
        Gene map locus 9q31

#132700 CYLINDROMATOSIS, FAMILIAL
        Gene map locus 16q12-q13

#132600 PILOMATRIXOMA
        Gene map locus 1p34.3-p32.1, 3p22-p21.3

 132500 EPISTAXIS, HEREDITARY

#132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
        Gene map locus 12q13.11-q13.2

#132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
        EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED
        Gene map locus 19p13.1

 132300 EPILEPSY, READING

 132100 EPILEPSY, PHOTOGENIC

 132090 EPILEPSY, BENIGN OCCIPITAL; BOE

#132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
        Gene map locus 3p21.3

#131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
        Gene map locus 12q13

#131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
        Gene map locus 8q24

#131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2
        Gene map locus 17q12-q21, 12q13

 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE

#131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
        Gene map locus 3p21.3

#131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE
        Gene map locus 17q12-q21, 17q11-qter, 12q13

#131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
        Gene map locus 17q12-q21, 12q13

#131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB
        EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED; EBDSC, INCLUDED
        Gene map locus 3p21.3

#131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
        Gene map locus 3p21.3

 131600 EPIDERMOID CYSTS

%131500 EPICANTHUS

 131460 EPIBLEPHARON OF UPPER LID

 131450 EPIBLEPHARON OF LOWER LID

 131445 EPENDYMOMA, FAMILIAL

#131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
        Gene map locus 5q31-q32

 131430 EOSINOPHILOPENIA

%131400 EOSINOPHILIA, FAMILIAL
        Gene map locus 5q31-q33

 131375 ENOLASE, SPERM SPECIFIC; ENO4

#131300 CAMURATI-ENGELMANN DISEASE
        Gene map locus 19q13.1

%131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1
        Gene map locus 10q26

 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD

#130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3
        Gene map locus 8q24.3, 8q24.3

%130720 LATERAL MENINGOCELE SYNDROME

 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE

 130700 EMPHYSEMA, HEREDITARY PULMONARY

#130650 BECKWITH-WIEDEMANN SYNDROME; BWS
        BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED
        Gene map locus 11p15.5, 11p15.5, 11p15.5, 5q35

#130600 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
        Gene map locus 1q21

 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES

 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS

 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON

#130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG

%130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE
        Gene map locus 20q13.2-q13.3

 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS

 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED

%130080 EHLERS-DANLOS SYNDROME, TYPE VIII
        Gene map locus 12p13

#130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM
        Gene map locus 5q35.2-q35.3

#130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
        EDS VIIB, INCLUDED; EDS7B, INCLUDED
        Gene map locus 17q21.31-q22, 7q22.1

#130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
        Gene map locus 2q31

#130020 EHLERS-DANLOS SYNDROME, TYPE III
        Gene map locus 6p21.3, 2q31

#130010 EHLERS-DANLOS SYNDROME, TYPE II
        Gene map locus 9q34.2-q34.3

#130000 EHLERS-DANLOS SYNDROME, TYPE I
        Gene map locus 17q21.31-q22, 9q34.2-q34.3, 2q31

 129905 EGASYN

%129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1
        Gene map locus 7q11.2-q21.3

#129850 EDINBURGH MALFORMATION SYNDROME

 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL

 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME

 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE

#129750 ECTOPIA PUPILLAE
        Gene map locus 11p13

#129600 ECTOPIA LENTIS, ISOLATED
        Gene map locus 15q21.1

 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST

 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET

 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE
        AMASTIA, INCLUDED

#129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2
        Gene map locus 13q12

#129490 ECTODERMAL DYSPLASIA 3; ED3
        Gene map locus 2q11-q13, 1q42.2-q43

#129400 RAPP-HODGKIN SYNDROME; RHS
        OROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED
        Gene map locus 3q27

%129200 ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE

%129150 ECHO VIRUS 11 SENSITIVITY; E11S
        Gene map locus 19q13.1-qter

 129100 EARS, ABILITY TO MOVE

 129000 EARRING HOLES, NATURAL

%128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES

 128950 EARLOBE CREASE

 128900 EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED

 128800 EAR WITHOUT HELIX

 128710 EAR PITS, POSTERIOR HELICAL

%128700 PREAURICULAR FISTULAE, CONGENITAL
        Gene map locus 8q11.1-q13.3

%128600 EAR MALFORMATION

 128500 EAR FOLDING

 128400 EAR FLARE

 128300 EAR EXOSTOSES

 128290 EAR ANTITRAGUS, TAG AT BASE OF

#128235 DYSTONIA 12; DYT12
        Gene map locus 19q12-q13.2

#128230 DYSTONIA, DOPA-RESPONSIVE; DRD
        Gene map locus 14q22.1-q22.2

%128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
        Gene map locus 16p11.2-q12.1

%128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4

#128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
        Gene map locus 9q34

%128000 DYSTELEPHALANGY

 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS

 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA

#127750 DEMENTIA, LEWY BODY; DLB
        DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED
        Gene map locus 5q35, 4q21

#127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1
        DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED; DYX4, INCLUDED
        Gene map locus 15q21

%127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL
        Gene map locus 4q35

#127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
        Gene map locus 14q12, 5p15.33, 3q21-q28

%127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA
        Gene map locus 6q24.2-q25.2

#127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
        Gene map locus 1q21.3

 127350 DYSCHONDROSTEOSIS AND NEPHRITIS

#127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD
        MADELUNG DEFORMITY, INCLUDED
        Gene map locus Ypter-p11.2, Xpter-p22.32

 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES

 127100 DWARFISM, LEVI TYPE

%127000 KENNY-CAFFEY SYNDROME, TYPE 2

 126950 DWARFISM WITH TALL VERTEBRAE

%126900 DUPUYTREN CONTRACTURE
        DUPUYTREN CONTRACTURE 1, INCLUDED; DUPC1, INCLUDED
        Gene map locus 16q11.1-q22

%126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I

 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION

%126800 DUANE RETRACTION SYNDROME 1; DURS1
        Gene map locus 8q13

#126700 BASAL LAMINAR DRUSEN
        Gene map locus 1q32

#126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
        MALATTIA LEVENTINESE, INCLUDED; MLVT, INCLUDED
        Gene map locus 2p16

%126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL

 126500 DOUBLE NAIL FOR FIFTH TOE

 126410 DNA, SATELLITE, ALPHA TYPE

 126390 DNA, LOW-REPETITIVE SEQUENCES OF

 126370 DNA, SATELLITE, III; HS3; D1Z1

 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE

%126300 DISTICHIASIS

 126250 DISTAL OSTEOSCLEROSIS

#126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
        Gene map locus 1q31-q32, 16p13, 6q21, 6p21.3, 6p21.3, 5p13

 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS

 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN

 126100 DIMPLES, FACIAL

%126070 DILUTION, PIGMENTARY

%126050 DIGITOTALAR DYSMORPHISM

 125900 DIASTEMA, DENTAL MEDIAL

 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY

#125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
        INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 20q12-q13.1, 20q12-q13.1, 19q13.1-q13.2, 19p13.2, 17q25, 17q12, 15q21-q23, 13q34, 13q12.1, 12q24.2, 11p12-p11.2, 11p15.1, 11p15.1, 10q25.3, 8q24.11, 7p15-p13, 6q22-q23, 6p12, 6p22.3, 5q34-q35.2, 4p16.1, 3q28, 2q3620q12-q13.1, 20q12-q13.1, 19q13.1-q13.2, 19p13.2, 17q25, 17q12, 15q21-q23, 13q34, 13q12.1, 12q24.2, 11p12-p11.2, 11p15.1, 11p15.1, 10q25.3, 8q24.11, 7p15-p13, 6q22-q23, 6p12, 6p22.3, 5q34-q35.2, 4p16.1, 3q28, 2q

%125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2
        Gene map locus 11p15.5

#125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2
        DIABETES, GESTATIONAL, INCLUDED
        Gene map locus 7p15-p13

#125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1
        Gene map locus 20q12-q13.1, 11p15.5

#125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
        Gene map locus 12q13

#125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
        Gene map locus 20p13

 125640 DERMOODONTODYSPLASIA

 125635 DERMOGRAPHISM, FAMILIAL

 125630 DERMODISTORTIVE URTICARIA; DDU

 125600 DERMATOSIS PAPULOSA NIGRA

#125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR
        Gene map locus 17q12-q21

%125590 DERMATOGLYPHICS--FINGERPRINT PATTERN

 125580 DERMATOGLYPHICS--FINGER RIDGE COUNT

 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT

%125550 DERMAL RIDGES-OFF-THE-END

%125540 DERMAL RIDGES, PATTERNLESS

 125530 DERMAL RIDGES, NELSON SYNDROME

%125520 CAYLER CARDIOFACIAL SYNDROME
        Gene map locus 22q11

#125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III
        Gene map locus 4q21.3

#125490 DENTINOGENESIS IMPERFECTA 1; DGI1
        Gene map locus 4q21.3

%125480 MAJOR AFFECTIVE DISORDER 1; MAFD1
        Gene map locus 18p, 5p15.3, 22q12

 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY

%125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES

#125420 DENTIN DYSPLASIA, TYPE II
        Gene map locus 4q21.3

%125400 DENTIN DYSPLASIA, TYPE I

#125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
        Gene map locus 12p13.31

 125350 DENTAL NONERUPTION

 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES

#125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL
        Gene map locus 19p13.2-p13.1

 125300 DENS IN DENTE AND PALATAL INVAGINATIONS

 125280 DENS EVAGINATUS

%125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF
        Gene map locus Chr.16

#125250 OPTIC ATROPHY 1 AND DEAFNESS
        OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY, INCLUDED
        Gene map locus 3q28-q29

 125230 DEAFNESS-CRANIOFACIAL SYNDROME

 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA

 125000 DEAFNESS, UNILATERAL

 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE

#124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
        Gene map locus 5q31

%124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL

%124700 DEAFNESS, MID-TONE NEURAL

#124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
        Gene map locus 13q11-q12

 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY

%124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT

 124400 DARWINIAN TUBERCLE OF PINNA

 124300 DARWINIAN POINT OF PINNA

#124200 DARIER-WHITE DISEASE; DAR
        DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED
        Gene map locus 12q23-q24.1

 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY

#124000 MITOCHONDRIAL COMPLEX III DEFICIENCY
        Gene map locus 8q22, 5q31.1, 2q33

 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE

 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME

#123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
        Gene map locus 10q26

#123700 CUTIS LAXA, AUTOSOMAL DOMINANT
        Gene map locus 14q32.1, 7q11.2

%123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED

 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME

 123557 CRYPTOTIA, FAMILIAL

%123550 CRYOGLOBULINEMIA, FAMILIAL MIXED

 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY

#123500 CROUZON SYNDROME
        PSEUDO-CROUZON SYNDROME, INCLUDED
        Gene map locus 10q26

#123450 CRI-DU-CHAT SYNDROME
        Gene map locus 5p15.2

#123400 CREUTZFELDT-JAKOB DISEASE; CJD
        CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED
        Gene map locus 20pter-p12, 6p21.3

#123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM
        Gene map locus 3p25

 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE
        Gene map locus 14q32

 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS

#123150 JACKSON-WEISS SYNDROME; JWS
        Gene map locus 10q26, 8p11.2-p11.1

#123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1
        SCAPHOCEPHALY, INCLUDED
        Gene map locus 7p21.3-p21.2

 123050 CRANIORHINY

#123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD
        Gene map locus 5p15.2-p14.1

 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA

#122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
        Gene map locus 2q35

 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

 122850 CRANIOACROFACIAL SYNDROME

 122780 COXOAURICULAR SYNDROME

%122750 COXA VARA

#122700 COUMARIN RESISTANCE
        WARFARIN SENSITIVITY, INCLUDED
        Gene map locus 19q13.2, 16p11.2, 10q24

%122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES
        POLYDYSSPONDYLY, INCLUDED

 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT

 122550 CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI
        Gene map locus 6p

#122470 CORNELIA DE LANGE SYNDROME 1; CDLS1
        Gene map locus 5p13.1

%122460 CORONAVIRUS 229E SUSCEPTIBILITY; CVS
        Gene map locus 15q11-qter

 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS

%122450 CORNEAL HYPESTHESIA, FAMILIAL

 122440 CORNEODERMATOOSSEOUS SYNDROME

 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION

%122400 CORNEAL EROSIONS, RECURRING HEREDITARY

#122200 CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1
        Gene map locus 5q31

#122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN
        Gene map locus 17q12, 12q13

#122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1
        Gene map locus 20p11.2, 1p34.3-p32.3

#121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1
        Gene map locus 5q31

#121850 CORNEAL FLECK DYSTROPHY
        Gene map locus 2q35

#121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
        Gene map locus 5q31

#121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
        Gene map locus 1p36.3

%121700 CORNEAL ENDOTHELIAL DYSTROPHY 1; CHED1
        Gene map locus 20p11.2-q11.2

 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS

%121400 CORNEA PLANA 1; CNA1

%121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS

 121350 CORACOCLAVICULAR JOINT, ANOMALOUS

 121270 COPPER DEFICIENCY, FAMILIAL BENIGN

%121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1
        Gene map locus 8q13-q21

#121201 EPILEPSY, BENIGN NEONATAL, 2; EBN2
        Gene map locus 8q24

#121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1
        Gene map locus 20q13.3

 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E

#120970 CONE-ROD DYSTROPHY 2; CORD2
        Gene map locus 19q13.3

#120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF

%120502 BRANCHIOOTIC SYNDROME 2
        Gene map locus 1q31

 120500 COMMISSURAL LIP PITS

%120450 COMEDONES, FAMILIAL DYSKERATOTIC

 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION

#120435 LYNCH SYNDROME I
        LYNCH SYNDROME II, INCLUDED
        Gene map locus 2p22-p21

 120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION

#120430 COLOBOMA OF OPTIC NERVE
        OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED

 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY

#120330 PAPILLORENAL SYNDROME
        RENAL HYPOPLASIA, ISOLATED, INCLUDED
        Gene map locus 10q24.3-q25.1

%120300 COLOBOMA OF MACULA

#120200 COLOBOMA, OCULAR
        Gene map locus 11p13, 8q22.1, 7q36

#120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
        Gene map locus 1q44

#120080 COLCHICINE RESISTANCE

%120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S
        Gene map locus 19pter-q13

 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS

 120000 COARCTATION OF AORTA

%119915 CLUSTER HEADACHE, FAMILIAL

%119900 CLUBBING OF DIGITS

 119800 CLUBFOOT

 119650 CLEIDORHIZOMELIC SYNDROME

#119600 CLEIDOCRANIAL DYSPLASIA; CCD
        CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED
        Gene map locus 6p21

%119580 BLEPHAROCHEILODONTIC SYNDROME

 119570 CLEFT SOFT PALATE

%119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME

#119540 CLEFT PALATE, ISOLATED; CPI
        CLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED
        Gene map locus 17p12-p11.1, 2q33

%119530 OROFACIAL CLEFT 1; OFC1
        Gene map locus 6p24.3, 1q43

#119500 POPLITEAL PTERYGIUM SYNDROME; PPS
        Gene map locus 1q32-q41

#119300 VAN DER WOUDE SYNDROME; VWS
        Gene map locus 1q32-q41

%119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
        Gene map locus 1q42.2-q43

%119000 CLEFT CHIN

 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL

 118943 CHYMOSIN PSEUDOGENE; CYMP
        PROCHYMOSIN, INCLUDED
        Gene map locus Chr.1

 118900 CIRRHOSIS, FAMILIAL

 118865 CHOROIDAL OSTEOMA, BILATERAL

%118840 CHROMATE RESISTANCE; CHR
        Gene map locus 5q35

%118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE

#118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1
        Gene map locus 2q35

 118750 CHOREOATHETOSIS, FAMILIAL INVERTED

#118700 CHOREA, BENIGN HEREDITARY; BHC
        Gene map locus 14q13

 118670 CHONDRONECTIN

 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE

 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
        CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED

 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION

#118600 CHONDROCALCINOSIS 2; CCAL2
        Gene map locus 5p15.2-p14.1

#118450 ALAGILLE SYNDROME 1; ALGS1
        Gene map locus 20p12

 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF

%118420 CHIARI MALFORMATION TYPE I
        CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED

#118400 CHERUBISM
        Gene map locus 4p16.3

 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS

 118330 CHEILITIS GLANDULARIS

 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM

#118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
        Gene map locus 17p11.2

 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE

#118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
        Gene map locus 17p11.2

#118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
        Gene map locus 1p36.2

#118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
        Gene map locus 1q22

%118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

 118005 CERVICAL VERTEBRAL DYSPLASIA

 118000 CERVICAL VERTEBRAL BRIDGE

 117900 CERVICAL RIB

 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS

#117800 EAR WAX, WET/DRY
        Gene map locus 16q12.1

 117650 CEREBROCOSTOMANDIBULAR SYNDROME

 117600 CEREBRAL SARCOMA

#117550 SOTOS SYNDROME
        Gene map locus 5q35

%117360 SPINOCEREBELLAR ATAXIA 29
        Gene map locus 3p26

#117300 DEMENTIA, FAMILIAL DANISH; FDD
        Gene map locus 13q14

#117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED
        Gene map locus 16q22.1

%117100 CENTRALOPATHIC EPILEPSY

#117000 CENTRAL CORE DISEASE OF MUSCLE
        MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED
        Gene map locus 19q13.1

%116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T
        Gene map locus Chr.3

#116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
        Gene map locus 21q22.3

 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM

#116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM
        CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED
        Gene map locus 7q11.2-q21

 116850 CATATRICHY

#116800 CATARACT, LAMELLAR
        CATARACT, MARNER TYPE, INCLUDED
        Gene map locus 16q21-q22.1

 116700 CATARACT, TOTAL CONGENITAL; CC

%116600 CATARACT, POSTERIOR POLAR, 1; CTPP1
        Gene map locus 1pter-p36.1

%116400 CATARACT, NUCLEAR TOTAL

%116300 CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE

#116200 CATARACT, ZONULAR PULVERULENT 1; CZP1
        Gene map locus 1q21.1

#116150 CATARACT-MICROCORNEA SYNDROME

 116100 CATARACT, MEMBRANOUS

%115900 CATARACT, FLORIFORM

%115800 CATARACT, CRYSTALLINE CORALLIFORM

#115700 CATARACT, CRYSTALLINE ACULEIFORM
        Gene map locus 2q33-q35

%115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
        Gene map locus 1pter-p36.13

%115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1
        Gene map locus 17q24

%115650 CATARACT, ANTERIOR POLAR, 1; CTAA1
        Gene map locus 14q24-qter

 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION

#115470 CAT EYE SYNDROME; CES
        Gene map locus 22q11

%115430 CARPAL TUNNEL SYNDROME; CTS1

 115400 CARPAL DISPLACEMENT

#115310 PARAGANGLIOMAS 4; PGL4
        Gene map locus 1p36.1-p35

 115300 CAROTENEMIA, FAMILIAL

 115250 CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROME
        COLLAGENOMA, FAMILIAL CUTANEOUS, INCLUDED

#115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
        Gene map locus 19q13.4

#115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A
        Gene map locus 1q21.2, 11p11.2

#115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
        Gene map locus 11p11.2

#115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
        Gene map locus 15q22.1

#115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
        Gene map locus 1q32

#115150 CARDIOFACIOCUTANEOUS SYNDROME
        Gene map locus 7q34

#115080 CARDIAC CONDUCTION DEFECT
        SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED

 115000 CARDIAC ARRHYTHMIA

#114900 CARCINOID TUMORS, INTESTINAL
        Gene map locus 11q23

 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH

 114650 CAR FACTOR DEFICIENCY

 114620 CANTU SYNDROME

%114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT

%114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT

#114550 HEPATOCELLULAR CARCINOMA
        HEPATOBLASTOMA, INCLUDED
        Gene map locus 17p13.1, 16p13.3, 8p22-p21.3, 7q31, 3q26.3, 3p22-p21.3, 2q33

#114500 COLORECTAL CANCER; CRC
        Gene map locus 20q13.2-q13.3, 18q21.1, 17q24, 17p11.2, 17p13.1, 15q15, 14q32.3, 14q24.3, 11p11.2, 9q32-q33, 1p13.2, 8p22-p21.3, 5q21-q22, 4q32, 3q26.3, 1p35, 2p25, 22q13

#114480 BREAST CANCER
        BREAST CANCER, FAMILIAL MALE, INCLUDED
        Gene map locus 17q22-q23, 17q22, 17p13.1, 16p12, 15q15.1, 14q32.3, 13q12.3, 12p12.1, 11q22.3, 11p15.5, 8q11, 5q33.2, 3q26.3, 2q34-q35, 2q33, 22q12.1

 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE

%114300 GORDON SYNDROME

#114290 CAMPOMELIC DYSPLASIA
        CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED
        Gene map locus 17q24.3-q25.1

%114200 CAMPTODACTYLY
        STREBLODACTYLY, INCLUDED

%114150 CAMPTOBRACHYDACTYLY

%114140 CALLOSITIES, HEREDITARY PAINFUL

%114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET

 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL

 114030 CAFE-AU-LAIT SPOTS, MULTIPLE

#114000 CAFFEY DISEASE
        PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED
        Gene map locus 17q21.31-q22

#113970 BURKITT LYMPHOMA; BL
        Gene map locus 8q24.12-q24.13

 113960 BUTYRYLESTERASE 1

%113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT

#113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
        HEART BLOCK, NONPROGRESSIVE, INCLUDED
        Gene map locus 19q13.2-q13.3, 3p21

#113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
        EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED
        Gene map locus 17q21-q22, 12q13

#113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4
        Gene map locus 15q21.1

 113700 BREASTS AND NIPPLES, ABSENCE OF

 113670 BREAST, UNILATERAL GIANT

#113650 BRANCHIOOTORENAL SYNDROME 1; BOR1
        Gene map locus 8q13.3

#113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS
        Gene map locus 6p24

 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA

 113600 BRANCHIAL CLEFT ANOMALIES
        BRANCHIAL CYSTS, INCLUDED

 113500 BRACHYRACHIA

 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME

 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME

 113475 BRACHYMETATARSUS IV

 113470 BRACHYMESOMELIA-RENAL SYNDROME

 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA

 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA

 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II

#113300 BRACHYDACTYLY, TYPE E; BDE
        Gene map locus 2q31-q32

#113200 BRACHYDACTYLY, TYPE D; BDD
        Gene map locus 2q31-q32

#113100 BRACHYDACTYLY, TYPE C; BDC
        Gene map locus 20q11.2

#113000 BRACHYDACTYLY, TYPE B1; BDB1
        Gene map locus 9q22

 112910 BRACHYDACTYLY, TYPE A6; BDA6

%112900 BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA

%112800 BRACHYDACTYLY, TYPE A4; BDA4

%112700 BRACHYDACTYLY, TYPE A3; BDA3

#112600 BRACHYDACTYLY, TYPE A2; BDA2
        Gene map locus 20q11.2, 4q23-q24

#112500 BRACHYDACTYLY, TYPE A1; BDA1
        Gene map locus 5p13.3-p13.2, 2q33-q35

 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION

%112440 BRACHYDACTYLY, COMBINED B AND E TYPES

 112430 BRACHYDACTYLY, LONG-THUMB TYPE

%112410 HYPERTENSION WITH BRACHYDACTYLY
        Gene map locus 12p12.2-p11.2

 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY

 112350 BOWING OF LEGS, ANTERIOR, WITH DWARFISM

#112310 BOOMERANG DYSPLASIA
        Gene map locus 3p14.3

%112300 BOOK SYNDROME

 112270 BONE PAIN, PERIODIC

%112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
        Gene map locus 9p22-p21

 112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES

%112200 BLUE RUBBER BLEB NEVUS

#112100 BLOOD GROUP--Yt SYSTEM; YT
        Gene map locus 7q22

#112050 BLOOD GROUP--WRIGHT ANTIGEN; WR
        Gene map locus 17q21-q22

#112010 BLOOD GROUP--WALDNER TYPE; WD
        Gene map locus 17q21-q22

%112000 BLOOD GROUP--Ul SYSTEM; UL

%111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf
        Gene map locus 4q28-q31

#111750 BLOOD GROUP--SCIANNA SYSTEM; SC
        Gene map locus 1p34

#111690 BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE; RHE

#111620 RADIN BLOOD GROUP ANTIGEN; RD
        Gene map locus 1p34

#111600 BLOOD GROUP--PUBLIC SYSTEMS

#111500 BLOOD GROUP--PRIVATE SYSTEMS

#111400 BLOOD GROUP, P SYSTEM
        P1 PHENOTYPE, INCLUDED
        Gene map locus 3q25, 22q13.2

#111380 BLOOD GROUP--OK; OK
        Gene map locus 19p13.3

 111360 BLOOD GROUP--NEWFOUNDLAND; NFLD

%111150 BLOOD GROUP--LUTHERAN INHIBITOR
        Gene map locus 11p

%111130 BLOOD GROUP--LKE; LKE

#110800 BLOOD GROUP--I SYSTEM; Ii
        ADULT i BLOOD GROUP PHENOTYPE, INCLUDED
        Gene map locus 6p24-p23

 110720 BLOOD GROUP--En

#110500 BLOOD GROUP--DIEGO SYSTEM; DI
        Gene map locus 17q21-q22

#110450 BLOOD GROUP--COLTON; CO
        Gene map locus 7p14

%110350 BLOOD GROUP--AHONEN; AN

 110310 BLOOD GROUP--ABH ANTIGEN, TYPE 2

 110250 BLOOD GROUP--ABO SUPPRESSOR

 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS

#110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
        BPES, TYPE I, INCLUDED
        Gene map locus 3q23

 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME

 110000 BLEPHAROCHALASIS, SUPERIOR

 109900 BLEPHAROCHALASIS AND DOUBLE LIP

 109820 BLADDER DIVERTICULUM

#109800 BLADDER CANCER
        Gene map locus 13q14.1-q14.2, 12p12.1, 11p15.5, 4p16.3

 109740 BIFID NOSE

#109730 AORTIC VALVE DISEASE
        Gene map locus 9q34.3

 109720 BILIARY CIRRHOSIS, PRIMARY; PBC

 109670 BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS
        Gene map locus Chr.21

%109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT
        Gene map locus Chr.21

%109650 BEHCET SYNDROME

 109600 BEETURIA

%109543 B-CELL MALIGNANCY, LOW-GRADE
        Gene map locus 13q14

 109540 B-CELL GROWTH FACTOR; BCGF

%109500 BASILAR IMPRESSION, PRIMARY

#109400 BASAL CELL NEVUS SYNDROME; BCNS
        Gene map locus 9q22.3

%109350 GASTROESOPHAGEAL REFLUX
        BARRETT METAPLASIA, INCLUDED
        Gene map locus 13q14

 109300 BANKI SYNDROME

%109200 ALOPECIA, ANDROGENETIC, 1; AGA1
        BALDNESS, MALE PATTERN, INCLUDED; MPB, INCLUDED
        Gene map locus 3q26

 109180 BABOON M7 VIRUS INTEGRATION SITE; BEVI
        Gene map locus Chr.6

%109160 AZOTEMIA, FAMILIAL

#109150 MACHADO-JOSEPH DISEASE; MJD
        Gene map locus 14q24.3-q31

 109130 AXIAL OSTEOMALACIA

 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES

#109100 AUTOIMMUNE DISEASE

 109050 AUROCEPHALOSYNDACTYLY

%109000 AURICULOOSTEODYSPLASIA

#108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA
        Gene map locus 11p15.2

 108980 ATRIOVENTRICULAR CONDUCTION TIME

 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL

#108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
        Gene map locus 5q34

%108800 ATRIAL SEPTAL DEFECT 1; ASD1
        ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED
        Gene map locus 6p21.3

#108770 ATRIAL STANDSTILL

%108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS

%108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS
        Gene map locus 19p13.3-p13.2

#108721 ATELOSTEOGENESIS, TYPE III; AOIII
        Gene map locus 3p14.3

#108720 ATELOSTEOGENESIS, TYPE I; AOI
        Gene map locus 3p14.3

 108700 ATAXIA WITH FASCICULATIONS

%108650 ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS

%108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT; SPAX1
        Gene map locus 12p13

#108500 EPISODIC ATAXIA, TYPE 2; EA2
        Gene map locus 19p13

 108450 ASYMMETRIC SHORT STATURE SYNDROME

 108420 ASPERMIOGENESIS FACTOR

%108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY

#108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY

 108320 ARTICHOKE, MODIFICATION OF TASTE BY

#108300 STICKLER SYNDROME, TYPE I; STL1
        Gene map locus 12q13.11-q13.2

 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS

%108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

#108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1
        Gene map locus 9p13.2-p13.1

 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC

 108100 ARTHRITIS, SACROILIAC

 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS

#108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
        INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED

 108000 ARTERIES, ANOMALIES OF

#107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1
        UHL ANOMALY, INCLUDED
        Gene map locus 14q24

%107950 ARRHENOBLASTOMA--THYROID ADENOMA

 107920 AROMATIC ALPHA-KETO ACID REDUCTASE
        Gene map locus 12p

 107900 ARMS, MALFORMATION OF

 107850 ARM FOLDING PREFERENCE

 107800 ARCUS CORNEAE

 107760 APOLIPOPROTEIN F; APOF

#107750 ARBITRARY RESTRICTION POLYMORPHISM 1

 107700 APPENDICITIS, PRONENESS TO

%107650 APNEA, OBSTRUCTIVE SLEEP

 107640 APNEA, CENTRAL SLEEP

 107601 APLASIA CUTIS CONGENITA AND COARCTATION OF AORTA; ACCCA

%107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC

 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA

 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION

#107480 TOWNES-BROCKS SYNDROME; TBS
        TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED
        Gene map locus 16q12.1

 107440 ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR

 107410 PROTEASE INHIBITOR 1-LIKE; PIL
        Gene map locus 14q32.1

 107320 ANTIPHOSPHOLIPID SYNDROME

%107290 ANTIPYRINE METABOLISM

#107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD
        Gene map locus 10q25, 1p32

%107200 ANOSMIA, CONGENITAL
        Gene map locus 18p11.23-q12.2

%107100 ANORECTAL ANOMALIES

 107000 ANONYCHIA-ONYCHODYSTROPHY

%106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES

 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY

 106900 ANONYCHIA-ECTRODACTYLY

 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION

%106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1
        Gene map locus 4q12

#106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1
        TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED
        Gene map locus 14q12-q13, 4p16.1

 106500 ANNULAR ERYTHEMA

 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS
        DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED

#106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1
        ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO, INCLUDED
        Gene map locus 6p21.3, 6p21.3

 106280 ANKYLOGLOSSIA

#106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
        Gene map locus 3q27

 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE

 106240 ANISOCORIA

 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT

 106220 ANIRIDIA AND ABSENT PATELLA

#106210 ANIRIDIA, TYPE II; AN2
        Gene map locus 11p13

#106200 ANIRIDIA; AN1

 106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS

 106160 ANGIOTENSIN II BINDING PROTEIN

#106100 ANGIOEDEMA, HEREDITARY; HAE
        ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED
        Gene map locus 11q11-q13.1

%106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS
        SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED

 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT

 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED

#105830 ANGELMAN SYNDROME; AS
        ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED
        Gene map locus 15q11-q13, Xq28

 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM

%105800 ANEURYSM, INTRACRANIAL BERRY, 1
        Gene map locus 7q11.2

#105650 DIAMOND-BLACKFAN ANEMIA; DBA
        Gene map locus 19q13.2, 8p23.3-p22

%105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3
        ERYTHRORETICULOSIS, HEREDITARY BENIGN, INCLUDED
        Gene map locus 15q21

 105580 ANAL CANAL CARCINOMA
        CLOACOGENIC CARCINOMA, INCLUDED
        Gene map locus 11q22-qter

 105570 ANDROSTENONE, ABILITY TO SMELL

 105565 ANAL SPHINCTER MYOPATHY, INTERNAL

 105563 ANAL SPHINCTER DYSPLASIA; ASDP

%105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1
        Gene map locus 9q21-q22

#105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
        Gene map locus 15q21

#105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
        AMYOTROPHIC LATERAL SCLEROSIS, AUTOSOMAL RECESSIVE, INCLUDED
        Gene map locus 12q12-q13, 2p13, 22q12.2, 21q22.1

 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA

#105250 AMYLOIDOSIS, PRIMARY CUTANEOUS
        Gene map locus 5p13.1

#105210 AMYLOIDOSIS VII
        AMYLOIDOSIS, OCULOLEPTOMENINGEAL, INCLUDED

#105200 AMYLOIDOSIS, FAMILIAL VISCERAL
        Gene map locus Chr.12, 4q28

#105150 AMYLOIDOSIS VI
        Gene map locus 20p11.2

#105120 AMYLOIDOSIS V
        LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED
        Gene map locus 9q34

 104600 AMENORRHEA-GALACTORRHEA SYNDROME

%104570 AMELOONYCHOHYPOHIDROTIC SYNDROME

%104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE
        MICRODONTIA, GENERALIZED, INCLUDED

#104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4
        Gene map locus 17q21.3-q22

#104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
        Gene map locus 4q21

 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA

 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM

#104310 ALZHEIMER DISEASE 2
        Gene map locus 19q13.2

#104300 ALZHEIMER DISEASE; AD
        ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED; AD1, INCLUDED
        Gene map locus 20p, 19p13.2, 17q23.1, 17q23, 17q11.2, 12p11.23-q13.12, 12p13.3-p12.3, 11q23.2-q24.2, 10q24, 10q24, 7q36, 7q36, 7q36, 4p14

#104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD
        Gene map locus 1q21-q23

%104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT

%104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY

 104110 ALOPECIA, FAMILIAL FOCAL

 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS

%104000 ALOPECIA AREATA 1
        ALOPECIA UNIVERSALIS, INCLUDED; AU, INCLUDED
        Gene map locus 18p11.3-p11.2

 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS

#103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
        Gene map locus 8q21

#103780 ALCOHOL DEPENDENCE
        Gene map locus 13q14-q21, 4q22, 4p13-p12

 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2
        Gene map locus 15q11-q13

#103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO
        PSEUDOHYPOPARATHYROIDISM, TYPE IA, INCLUDED
        Gene map locus 20q13.2

#103500 TIETZ SYNDROME
        Gene map locus 3p14.1-p12.3

#103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS
        Gene map locus 11q14-q21, 3p14.1-p12.3

%103420 ALACRIMA, CONGENITAL

 103400 AINHUM

 103300 AGLOSSIA-ADACTYLIA
        HANHART SYNDROME, INCLUDED

#103285 ADULT SYNDROME
        Gene map locus 3q27

 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL

%103200 ADIPOSIS DOLOROSA

#103100 ADIE PUPIL
        HOLMES-ADIE SYNDROME, INCLUDED

#103050 ADENYLOSUCCINASE DEFICIENCY
        Gene map locus 22q13.1

#102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES

%102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO

 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO

 102710 ADENOSINE DEAMINASE COMPLEXING PROTEIN 1; ADCP1
        Gene map locus Chr.6

#102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
        SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED
        Gene map locus 20q13.11

 102699 ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1
        Gene map locus 19q13-qter

 102660 ADAMANTINOMA OF LONG BONES

 102650 ADACTYLIA, UNILATERAL

 102590 ACYLASE, COBALT-ACTIVATED

#102530 GLOBOZOOSPERMIA
        Gene map locus 6q21, 3q26.3

 102520 ACRORENAL SYNDROME

%102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF
        Gene map locus 2q36

%102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE

 102400 ACROOSTEOLYSIS

%102370 ACROMICRIC DYSPLASIA

%102350 ACROMIAL DIMPLES

%102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1
        Gene map locus 12q12-q21

#102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING
        PITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED
        Gene map locus 20q13.2, 16p13.3, 11q13.3

%102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME

%102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA

 102000 ACROLEUKOPATHY, SYMMETRIC

#101900 ACROKERATOSIS VERRUCIFORMIS; AKV
        Gene map locus 12q23-q24.1

%101850 ACROKERATOELASTOIDOSIS; AKE

 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT

 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE

%101800 ACRODYSOSTOSIS

#101600 PFEIFFER SYNDROME
        NOACK SYNDROME, INCLUDED
        Gene map locus 10q26, 8p11.2-p11.1

#101400 SAETHRE-CHOTZEN SYNDROME; SCS
        SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
        Gene map locus 10q26, 7p21

#101200 APERT SYNDROME
        APERT-CROUZON DISEASE, INCLUDED
        Gene map locus 10q26

 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III

#101000 NEUROFIBROMATOSIS, TYPE II; NF2
        Gene map locus 22q12.2

%100820 ACHOO SYNDROME

#100800 ACHONDROPLASIA; ACH
        Gene map locus 4p16.3

 100700 ACHARD SYNDROME

 100680 ACETYLCHOLINESTERASE EXPRESSION; ACEE

 100675 ACETAMINOPHEN METABOLISM

%100600 ACANTHOSIS NIGRICANS

%100300 ADAMS-OLIVER SYNDROME; AOS
        APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED

 100200 ABDUCENS PALSY

 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM

#100070 AORTIC ANEURYSM, ABDOMINAL
        ARTERIOMEGALY, INCLUDED

 100050 AARSKOG SYNDROME

